Pathological Conditions, Signs and Symptoms
Female Urogenital Diseases and Pregnancy Complications
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities
Extravasation of Diagnostic and Therapeutic Materials
Interferon gamma, receptor 1, deficiency
Congenital bilateral aplasia of vas deferens
Hemorrhagic shock and encephalopathy syndrome
Hydrocephalus, Skeletal Anomalies, and Mental Disturbance
Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturban
Radiation Sensitivity of Natural Killer Activity
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
Spongiform Encephalopathy with Neuropsychiatric Features
Neurologic Disease, Infantile Multisystem, with Osseous Fragility
Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Chromosomal Instability with Tissue-Specific Radiosensitivity
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distin
Trifunctional Protein Deficiency With Myopathy And Neuropathy
Delirium, Dementia, Amnestic, Cognitive Disorders
Schizophrenia and Disorders with Psychotic Features
Autoimmune Diseases of the Nervous System
Central Nervous System Parasitic Infections
Drug-Related Side Effects and Adverse Reactions
IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRGAT
Cystic Adenomatoid Malformation of Lung, Congenital
Porcine Reproductive and Respiratory Syndrome
Attention Deficit and Disruptive Behavior Disorders
Feeding and Eating Disorders of Childhood
Hereditary Central Nervous System Demyelinating Diseases
Central Nervous System Fungal Infections
Central Nervous System Bacterial Infections
Central Nervous System Protozoal Infections
Porcine Postweaning Multisystemic Wasting Syndrome
Bisphosphonate-Associated Osteonecrosis of the Jaw
STAPES ANKYLOSIS WITH BROAD THUMB AND TOES
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1
ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2
ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 2
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 3
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 4
NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B
46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS
THYROID-STIMULATING HORMONE LEVEL QUANTITATIVE TRAIT LOCUS 1
OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS
HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS
Dwarfism stiff joint ocular abnormalities
Spondyloepimetaphyseal dysplasia with multiple dislocations
Pruritic urticarial papules plaques of pregnancy
Median cleft lip, corpus callosum, lipoma, and skin polyps
Ectodermal dysplasia, hypohidrotic, with immune deficiency
Ectodermal dysplasia/ skin fragility syndrome
Idiopathic basal ganglia calcification 1
Immotile cilia syndrome, due to defective radial spokes
Immotile cilia syndrome, due to excessively long cilia
Immunodeficiency without anhidrotic ectodermal dysplasia
Vertebral fusion posterior lumbosacral blepharoptosis
Eyebrows duplication of, with stretchable skin and syndactyly
Cloverleaf skull micromelia thoracic dysplasia
Motor neuropathy peripheral with dysautonomia
Follicular hamartoma alopecia cystic fibrosis
Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response
Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections
Hepatic venoocclusive disease with immunodeficiency
Sclerosing bone dysplasia mental retardation
Growth mental deficiency syndrome of Myhre
Macroepiphyseal dysplasia, McAlister Coe type
Synovitis granulomatous with uveitis and cranial neuropathies
Rapidly progressive glomerulonephritis with pulmonary hemorrhage
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Bone Fragility with Contractures, Arterial Rupture, and Deafness
Cerebroretinal Microangiopathy with Calcifications and Cysts
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
Immunodeficiency, Gonadal Dysgenesis, And Pulmonary Fibrosis
Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face
Pneumonia, Progressive Interstitial, of Sheep
Adrenocortical Hypofunction, Chronic Primary Congenital
Ciliary Discoordination Due To Random Ciliary Orientation
Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked
Cerebral Palsy, Ataxic, Autosomal Recessive
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Pos
Diabetes Mellitus, Transient Neonatal, 1
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
Carnitine Palmitoyltransferase II Deficiency, Infantile
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal
Osteosclerosis with Ichthyosis and Fractures
Osteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones, but Without Fractures
Microcephaly with Chorioretinopathy, Autosomal Dominant
Invasive Pneumococcal Disease, Recurrent Isolated, 1
Immunodeficiency due to Defect in MAPBP-Interacting Protein
Diabetes Mellitus, Transient Neonatal, 2
Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, a
B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction
Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency
Cyclic Vomiting Syndrome with Neuromuscular Disease
Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein
Immunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 A
Bile and Pancreatic Ducts, Complete Absence of
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia
Neutropenia, Nonimmune Chronic Idiopathic, Adult
Invasive Pneumococcal Disease, Recurrent Isolated, 2
Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ea
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema
Laryngeal Atresia, Encephalocele, and Limb Deformities
Thumb Agenesis, Short Stature, And Immunodeficiency
Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures
Glycogen Storage Disease of Heart, Lethal Congenital
Fibula, Recurrent Dislocation of Head of
Diarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency
Cryptophthalmos, Unilateral or Bilateral, Isolated
Complement Component 4, Partial Deficiency Of
Complement Component 3 Deficiency, Autosomal Recessive
Stickler Syndrome, Autosomal Recessive, COL9A1-Related
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Interleukin 2 Receptor, Alpha, Deficiency of
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations
Developmental Delay, Epilepsy, and Neonatal Diabetes
Liver Fibrocystic Disease and Polydactyly
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant
Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant
Microcephaly with Chorioretinopathy, Autosomal Recessive
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulon
Lymphoblastic Transformation, Intrinsic Defect in
Inosine Phosphorylase Deficiency, Immune Defect Due To
Immunodeficiency, Partial Combined, with Absence of HLA Determinants and Beta-2-Microglobulin from L
Hypoglycemia, Neonatal, Simulating Foetopathia Diabetica
GSD IV, Neuromuscular Form, Fatal Perinatal
GSD IV, Neuromuscular Form, Adult, with Isolated Myopathy
Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia
Combined Inflammatory and Immunologic Defect
Immunodeficiency due to Defect in CD3-Zeta
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation
Vasculopathy, Retinal, With Cerebral Leukodystrophy
Immunodeficiency due to Defect in CD3-Epsilon
Immunodeficiency due to Defect in CD3-Gamma
Antibody Deficiency due to Defect in CD19
Adenosine Triphosphate, Elevated, Of Erythrocytes
Hereditary Myopathy with Early Respiratory Failure
Eccrine Syringofibroadenomatosis with Eyelid Abnormalities
Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy
Natural Killer Cell Deficiency, Familial Isolated
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Polyposis, Intestinal, With Multiple Exostoses
Patella, Familial Recurrent Dislocation Of
Pancytopenia and Occlusive Vascular Disease
Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement
Preauricular Tag, Isolated, Autosomal Dominant, 1
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Immunodeficiency, Hypogammaglobulinemia, and Reduced B Cells
Mental Retardation, Joint Hypermobility, And Skin Laxity, With Or Without Metabolic Abnormalities
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
Diarrhea 3, Secretory Sodium, Congenital
Cirrhosis, Familial, with Pulmonary Hypertension
Hemolytic Anemia, Congenital, with Emphysema and Cutis Laxa
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
Nephrolithiasis, X-Linked Recessive, with Renal Failure
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Bullous Dystrophy, Hereditary Macular Type
Absent Eyebrows and Eyelashes with Mental Retardation
Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract
Facial Palsy, Congenital, Unilateral Or Bilateral
Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism
Platelet Disorder, Familial, with Associated Myeloid Malignancy
Mental Retardation, Microcephaly, Epilepsy, And Coarse Face
Atrophia Maculosa Varioliformis Cutis, Familial
Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related
Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism
Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myel
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull
Lissencephaly Type III and Bone Dysplasia
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stat
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin
Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomali
Portal Vein, Cavernous Transformation Of
Epiphyseal Dysplasia, Multiple, with Myopathy
Diabetes Mellitus, Permanent Neonatal, With Neurologic Features
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis
Cataract, Congenital Zonular, with Sutural Opacities
Proximal Myopathy with Focal Depletion of Mitochondria
Carnitine Palmitoyltransferase II Deficiency, Late-Onset
Spondyloepiphyseal Dysplasia with Atlantoaxial Instability
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia
Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hype
Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant
Onychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair
Noduli Cutanei, Multiple, with Urinary Tract Abnormalities
Hypertension Resistant to Conventional Therapy
Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine
Ganglioneuromatosis of the Alimentary Tract
Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type
Muscular Hypoplasia, Congenital Universal, of Krabbe
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
Progressive External Ophthalmoplegia With Hypogonadism
Microphthalmia, Isolated, with Cataract 1
Mental and Growth Retardation with Amblyopia
Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type
Lymphedema and Cerebral Arteriovenous Anomaly
Leukocyte Nuclear Appendages, Hereditary Prevalence of
Lattice Degeneration of Retina Leading to Retinal Detachment
Kallikrein, Decreased Urinary Activity of
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria
Mitochondrial DNA Depletion Syndrome, Myopathic Form
Omphalocele, Diaphragmatic Hernia, And Radial Ray Defects
Stickler Syndrome, Type I, Nonsyndromic Ocular
Rhegmatogenous Retinal Detachment, Autosomal Dominant
Cataract, Congenital Nuclear, Autosomal Recessive 1
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema
Foveal Hypoplasia and Anterior Segment Dysgenesis
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung
Combined Oxidative Phosphorylation Deficiency 1
Nephrotic Syndrome, Congenital, with or without Ocular Abnormalities
Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature
Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepa
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia
Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly
Obesity, Hyperphagia, and Developmental Delay
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails
Parotid Salivary Glands, Polycystic Disease of
Motor Neuron Disease with Dementia and Ophthalmoplegia
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects
Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis
Myopathy, X-Linked, with Excessive Autophagy
Modifier, X-Linked, for Neurofunctional Defects
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy
Mental Retardation, X-Linked, Syndromic 12
Corpus Callosum, Partial Agenesis of, X-Linked
Hyperthyroxinemia due to Decreased Peripheral Conversion of T4
Thyroid Hormone Resistance, Selective Pituitary
Globulin Anomaly involving Beta (2A)-Globulin
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency
Craniosynostosis with Ocular Abnormalities and Hallucal Defects
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis,
Mandibulofacial Dysostosis with Ptosis, Autosomal Dominant
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Gro
Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones
Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like
Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Secretory Diarrhea, Myopathy, and Deafness
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder
Exudative Vitreoretinopathy, Familial, X-Linked Recessive
Microphthalmia, Isolated, with Cataract 3
Pigmentary Disorder, Reticulate, with Systemic Manifestations
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked
Nystagmus 5, Infantile Periodic Alternating
Nephrogenic Syndrome of Inappropriate Antidiuresis
Spinal Muscular Atrophy, Distal, X-Linked 3
Mental Retardation, X-Linked, with Short Stature
Microphthalmia, Isolated, with Coloboma 1
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital An
Terminal Osseous Dysplasia and Pigmentary Defects
Myotubular Myopathy with Abnormal Genital Development
Adrenal Hypoplasia, Congenital, with Precocious Puberty
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull
Cataract, Sutural, with Punctate and Cerulean Opacities
Cardioneuromyopathy with Hyaline Masses and Nemaline Rods
Lipodystrophy with Congenital Cataracts and Neurodegeneration
Epilepsy, Female-Restricted, with Mental Retardation
Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism
Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia
Vitiligo, Progressive, with Mental Retardation and Urethral Duplication
Ulnar Hypoplasia with Mental Retardation
Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness
Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies
Spastic Paresis, Glaucoma, and Mental Retardation
Insulin-Like Growth Factor I, Resistance To
Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism
Respiratory Underresponsiveness to Hypoxia and Hypercapnia
Renal, Genital, and Middle Ear Anomalies
Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia
Pulmonary Hypertension, Primary, Autosomal Recessive
Popliteal Pterygium Syndrome, Lethal Type
Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia
Polycystic Kidney, Cataract, and Congenital Blindness
Plasma Clot Retraction Factor, Deficiency of
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain
Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria
Ophthalmoplegia Totalis with Ptosis and Miosis
Myopathy, Hyaline Body, Autosomal Recessive
Myopathy with Giant Abnormal Mitochondria
Myopathy with Lactic Acidosis, Hereditary
Myopathy due to Malate-Aspartate Shuttle Defect
Myopathy, Granulovacuolar Lobular, with Electrical Myotonia
Foveal Hypoplasia with Anterior Segment Anomalies
Fourth Cranial Nerve Palsy, Familial Congenital
Focal Epithelial Hyperplasia of the Oral Mucosa
Factor V Excess with Spontaneous Thrombosis
Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly
Diphenylhydantoin, Defect in Hydroxylation of
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas
Diffuse Lewy Body Disease with Gaze Palsy
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions
Dementia/Parkinsonism With Non-Alzheimer Amyloid Plaques
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy
Deafness, Conductive Stapedial, with Ear Malformation and Facial Palsy
Cutis Gyrata Syndrome of Beare And Stevenson
Cataract, Autosomal Recessive Congenital 1
Delayed Cranial Ossification due to CBFB Haploinsufficiency
Colonic Varices without Portal Hypertension
Neutral Lipid Storage Disease with Myopathy
Seborrhea-Like Dermatitis with Psoriasiform Elements
Vasculitis, Lymphocytic, Cutaneous Small Vessel
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism
Gonadal Dysgenesis, Hypergonadotropic, XX Type, Short Stature, and Recurrent Metabolic Acidosis
Cataract, Autosomal Recessive, Early-Onset, Pulverulent
Cataract, Central Saccular, With Sutural Opacities
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
Cerebellar Ataxia and Hypergonadotropic Hypogonadism
Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation
Growth Deficiency and Mental Retardation with Facial Dysmorphism
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy
Mesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities
Hypomagnesemia 5, Renal, with Ocular Involvement
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Leg, Absence Deformity of, with Congenital Cataract
Keratoconus Posticus Circumscriptus with Associated Malformations
Keratoconus And Congenital Hip Dysplasia
Jejunal Atresia with Microcephaly and Ocular Anomalies
Intrinsic Factor and R Binder, Combined Congenital Deficiency of
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Indifference to Pain, Congenital, Autosomal Recessive
Hypouricemia, Hypercalcinuria, and Decreased Bone Density
Hypophosphatemia, Renal, with Intracerebral Calcifications
Hypohidrosis aith Abnormal Palmar Dermal Ridges
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly
Hyperuricemia, Infantile, with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltrans
Hypermetabolism due to Defect in Mitochondria
Growth Retardation, Small and Puffy Hands and Feet, and Eczema
Gonadal Dysgenesis, XY Type, with Associated Anomalies
Facial Dysmorphism with Multiple Malformations
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness
Endothelial Dystrophy, Congenital Hereditary, with Nail Hypoplasia
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal
Encephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts
Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality
Diverticulosis of Bowel, Hernia, and Retinal Detachment
Deafness, Cochlear, with Myopia and Intellectual Impairment
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality
Cutis Verticis Gyrata and Mental Deficiency
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig
Combined Oxidative Phosphorylation Deficiency 4
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal
Encephalopathy, Spastic Tetraparesis, and Hypogonadism
Cataract, Congenital Nuclear, Autosomal Recessive 2
Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia
Charcot-Marie-Tooth Neuropathy, Type 4B2, with Early-Onset Glaucoma
Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/Mental Retardation Syndrome
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly
Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism
Cholestasis with Gallstone, Ataxia, and Visual Disturbance
Cerebellar Ataxia and Hypogonadotropic Hypogonadism
Microphthalmia, Isolated, with Cataract 2
Cardiomyopathy Associated With Myopathy And Sudden Death
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation
Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degen
Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy
Antithrombin, Familial Hemorrhagic Diathesis due to
Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Platelet Receptor for Collagen, Deficiency of
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
Bleeding Disorder due to Defective Thromboxane A2 Receptor
Thrombophilia due to Thrombomodulin Defect
Synovial Chondromatosis, Familial, with Dwarfism
Synostosis of Talus and Calcaneus with Short Stature
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal
Celiac Artery Stenosis from Compression by Median Arcuate Ligament of Diaphragm
Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformat
Cancer, Familial, with In Vitro Radioresistance
Calcific Aortic Disease with Immunologic Abnormalities, Familial
Adult i Blood Group with Congenital Cataract
Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skele
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects
Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts
Dyserythropoiesis, Congenital, with Internuclear Chromatin Bridges and Ultrastructurally Normal Eryt
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation
Microphthalmia, Cataracts, and Iris Abnormalities
Pigmented Nodular Adrenocortical Disease, Primary, 1
Pigmented Nodular Adrenocortical Disease, Primary, 2
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Autosomal Dominant 3
Microphthalmia, Isolated, with Cataract 4
Fibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence
Spondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Reta
Emphysema, Congenital, With Deafness, Penoscrotal Web, And Mental Retardation
Brachydactyly, Intraventricular Septal Defect, And Deafness
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brach
Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities
Plantar Lipomatosis, Unusual Facies, and Developmental Delay
Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency
Fibrosis Of Extraocular Muscles, Congenital, 2
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma
Superior Transverse Scapular Ligament, Calcification Of, Familial
Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Retinal Nonattachment And Falciform Detachment
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type
Pronation-Supination Of The Forearm, Impairment Of
Polyposis Of Gastric Fundus Without Polyposis Coli
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome
Night Blindness, Congenital Stationary, Autosomal Dominant 2
Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria
Surfactant Metabolism Dysfunction, Pulmonary, 1
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Myopathy, Congenital, With Excess Of Muscle Spindles
Cataract, Autosomal Dominant, Multiple Types 1
Cataract, Congenital Nuclear, Autosomal Recessive 3
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, And Atyp
Aplasia Cutis Congenita, Congenital Heart Defect, And Frontonasal Cysts
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 2
Atypical Mycobacteriosis, Familial, X-Linked 2
Atypical Mycobacteriosis, Familial, X-Linked 1
Skin/Hair/Eye Pigmentation, Variation In, 9
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly
Skin/Hair/Eye Pigmentation, Variation In, 8
Hypergonadotropic Hypogonadism And Partial Alopecia
Kininogen Deficiency, High Molecular Weight and Low Molecular Weight
Skin/Hair/Eye Pigmentation, Variation In, 5
Combined Oxidative Phosphorylation Deficiency 5
Myopathy, Early-Onset, with Fatal Cardiomyopathy
Skin/Hair/Eye Pigmentation, Variation In, 6
Skin/Hair/Eye Pigmentation, Variation In, 7
Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty
Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant
Red cell phospholipid defect with hemolysis
Cataract, autosomal recessive congenital 2
Cataract, congenital, with microcornea or slight microphthalmia
Cataracts, ataxia, short stature, and mental retardation
Arthrogryposis multiplex congenita, distal, X-linked
Arthropathy, progressive pseudorheumatoid, of childhood
Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma
Contractures ectodermal dysplasia cleft lip palate
Cornea guttata with anterior polar cataract
Epidermolysis bullosa, late-onset localized junctional, with mental retardation
Refsum disease with increased pipecolic acidemia
Abdominal chemodectomas with cutaneous angiolipomas
Absent corpus callosum cataract immunodeficiency
Capillary leak syndrome with monoclonal gammopathy
Carcinoma, squamous cell of head and neck
Cardiomyopathy dilated with Woolly hair and keratoderma
Carnitine palmitoyl transferase 2 deficiency
Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy
Acromegaloid features, overgrowth, cleft palate, and hernia
Male pseudohermaphroditism/mental retardation syndrome, Verloes type
Congenital disorder of glycosylation type 2A
Spondyloepiphyseal dysplasia tarda, Toledo type
Spondylohypoplasia, arthrogryposis and popliteal pterygium
Spondylometaphyseal dysplasia, 'corner fracture' type
Macrosomia obesity macrocephaly ocular abnormalities
Pterygium colli mental retardation digital anomalies
Hydrocephalus, endocardial fibroelastosis, and cataracts
Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia
Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and leukomelanodermic papules
Cone dystrophy, x-linked, with tapetal-like sheen
Congenital absence of the sternocleidomastoid muscle
Dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy
Deafness conductive ptosis skeletal anomalies
Deafness nephritis ano rectal malformation
MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome
Osteosclerosis with ichthyosis and premature ovarian failure
Myelocytic leukemia-like syndrome, familial, chronic
Myopathy, congenital nonprogressive with Moebius and Robin sequences
Night blindness skeletal anomalies unusual facies
Megacystis microcolon intestinal hypoperistalsis syndrome
Megalencephalic leukoencephalopathy with subcortical cysts
Megalencephaly cutis marmorata telangiectatica congenita
Keratosis follicularis dwarfism cerebral atrophy
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Keratitis, Ichthyosis, and Deafness (KID) Syndrome
Diaphyseal medullary stenosis with malignant fibrous histiocytoma
Cutaneous photosensitivity and colitis, lethal
Blepharophimosis with ptosis, syndactyly, and short stature
Radial hypoplasia, triphalangeal thumbs and hypospadias
Radiation induced angiosarcoma of the breast
Radioulnar synostosis retinal pigment abnormalities
Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert
Ankyloblepharon filiforme adnatum cleft palate
Abnormal fusion of dental cementum with alveolar bone
Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly
Nephrosis deafness urinary tract digital malformation
Progressive hearing loss stapes fixation
Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss
Cochleosaccular degeneration of the inner ear and progressive cataracts
Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities
VACTERL association with hydrocephaly, X-linked
Van Maldergem Wetzburger Verloes syndrome
Triglyceride storage disease with impaired long-chain fatty acid oxidation
Fallot complex with severe mental and growth retardation
Schimke X-linked mental retardation syndrome
Spastic paraplegia 15, autosomal recessive
Situs inversus totalis with cystic dysplasia of kidneys and pancreas
Sketetal dysplasia coarse facies mental retardation
Woolly hair, hypotrichosis, everted lower lip and outstanding ears
T-cell immunodeficiency, congenital alopecia and nail dystrophy
Craniosynostosis, anal anomalies, and porokeratosis
Familial encephalopathy with neuroserpin inclusion bodies
Polycythemia, primary familial and congenital
Familial hypersecretion of adrenal androgens
Spastic paraplegia 9, autosomal dominant
Spastic paraplegia with precocious puberty
Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals
Thumb deformity, alopecia, pigmentation anomaly
Thyroid hormone plasma membrane transport defect
Umbilical cord ulceration and intestinal atresia
Teeth noneruption of with maxillary hypoplasia and genu valgum
Torticollis keloids cryptorchidism renal dysplasia
Brachydactyly preaxial with hallux varus and thumb abduction
Optic atrophy and cataract, autosomal dominant
Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked
Parkinsonism, early onset with mental retardation
Knuckle pads, leuconychia and sensorineural deafness
Sacral defect and anterior sacral meningocele
Sacral meningocele conotruncal heart defects
Prostatic malacoplakia associated with prostatic abscess
Autosomal recessive nonsyndromic congenital nuclear cataract
Microcephalic primordial dwarfism Toriello type
Microcephaly albinism digital anomalies syndrome
Microcephaly cervical spine fusion anomalies
Muscular dystrophy, congenital, infantile with cataract and hypogonadism
Pili torti developmental delay neurological abnormalities
Arachnodactyly ataxia cataract aminoaciduria mental retardation
Arthrogryposis epileptic seizures migrational brain disorder
Mental retardation, keratoconus, febrile seizures, and sinoatrial block
Mental retardation-hypotonic facies syndrome, x-linked, 1
Microphthalmia associated with colobomatous cyst
Mitochondrial myopathy with lactic acidosis
Mitral valve prolapse, familial, X-linked
Steatocystoma multiplex with natal teeth
Sebaceous gland hyperplasia, familial presenile
Microcephaly microcornea syndrome Seemanova type
Microcephaly seizures mental retardation heart disorders
Microcephaly, corpus callosum dysgenesis and cleft lip-palate
Microcornea, glaucoma, and absent frontal sinuses
Osteogenesis imperfecta congenita, microcephaly, and cataracts
Rhizomelic dysplasia Patterson Lowry type
Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
Hair defect with photosensitivity and mental retardation
Chromosome 4, 4q Terminal Deletion Syndrome
Lymphedema, microcephaly and chorioretinopathy syndrome
Macrogyria, pseudobulbar palsy and mental retardation
Renal hepatic pancreatic dysplasia Dandy Walker cyst
Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss
Macules hereditary congenital hypopigmented and hyperpigmented
Oculocerebral hypopigmentation syndrome type Preus
Lateral semicircular canal malformation, familial, with external and middle ear abnormalities
Femur bifid with monodactylous ectrodactyly
Finnish lethal neonatal metabolic syndrome
Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia
Agammaglobulinemia, microcephaly, and severe dermatitis
Cervical ribs sprengel anomaly anal atresia urethral obstruction
Charcot-Marie-Tooth disease with ptosis and parkinsonism
Hyperferritinemia, hereditary, with congenital cataracts
Autoimmune polyendocrinopathy syndrome, type 1
Preaxial deficiency, postaxial polydactyly and hypospadias
Cataract congenital dominant non nuclear
Histiocytosis with joint contractures and sensorineural deafness
Nasopharyngeal teratoma with Dandy Walker diaphragmatic hernia
Chondrodysplasia punctata 2, X-linked dominant
Neurodegeneration with brain iron accumulation (NBIA)
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
Cardiomyopathy, fatal fetal, due to myocardial calcification
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorph
Congenital Deficiency of Pulmonary Surfactant Protein B
Blepharophimosis, Ptosis, and Epicanthus Inversus
Hemangiomatosis, Cutaneous, with Associated Features
Pyruvate Dehydrogenase Complex Deficiency Disease
Ossification of Posterior Longitudinal Ligament
Neoplasms, Ductal, Lobular, and Medullary
Carbamoyl-Phosphate Synthase I Deficiency Disease
Nervous System Autoimmune Disease, Experimental
Central Nervous System Vascular Malformations
Lupus Vasculitis, Central Nervous System
Hyper-IgM Immunodeficiency Syndrome, Type 1
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Diffuse Neurofibrillary Tangles with Calcification
Isolated Noncompaction of the Ventricular Myocardium
Hereditary Breast and Ovarian Cancer Syndrome
Respiratory Aspiration of Gastric Contents
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1
OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)
PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL
BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO
TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL
HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (AT
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO
SYSTEMIC LUPUS ERYTHEMATOSUS WITH HEMOLYTIC ANEMIA, SUSCEPTIBILITY TO, 1
SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 1
SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 2
SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 3
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 4
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7
THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINO
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4
PULMONARY HYPERTENSION, CHRONIC THROMBOEMBOLIC, WITHOUT DEEP VEIN THROMBOSIS, SUSCEPTIBILITY TO
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY
HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3
Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb
Skin/Hair/Eye Pigmentation, Variation In, 4
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
Thrombophilia, Familial, Due To Decreased Release Of Tissue Plasminogen Activator
Progeroid Syndrome, Congenital, Petty Type
Skin/Hair/Eye Pigmentation, Variation In, 11
Skin/Hair/Eye Pigmentation, Variation In, 10
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Cataract, Juvenile, With Microcornea And Glucosuria
Surfactant Metabolism Dysfunction, Pulmonary, 4
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Myopathy, Reducing Body, X-Linked, Childhood-Onset
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe
Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations
Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, With Panhypopituitarism
Diarrhea 3, Secretory Sodium, Congenital, Syndromic
Renal Tubular Dysgenesis With Choanal Atresia And Athelia
Pituitary Hormone Deficiency, Combined, 4
Lethal Arthrogryposis With Anterior Horn Cell Disease
Chromosome 22q11.2 Deletion Syndrome, Distal
Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency
Hypotonia, Seizures, And Precocious Puberty
Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement
Thrombophilia, X-Linked, Due To Factor Ix Defect
Mental Retardation, X-Linked, Syndromic, Zdhhc9-Related
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosoma
Fibrosis of Extraocular Muscles, Congenital, 3C
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphic Features
Thrombophilia Due To Elevated Histidine-Rich Glycoprotein
Fibrosis of Extraocular Muscles, Congenital, 3B
Hyperuricemic Nephropathy, Familial Juvenile 2
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Prostaglandin-Endoperoxide Synthase 1 Deficiency, Platelet
Pituitary Hormone Deficiency, Combined, 1
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1
Cataract, Autosomal Recessive Congenital 3
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Growth Retardation, Developmental Delay, Coarse Facies, And Early Death
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
Combined Malonic and Methylmalonic Aciduria
Congenital Fibrosis of the Extraocular Muscles
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome
Multiple Cutaneous and Mucosal Venous Malformations
Attention Deficit Disorder with Hyperactivity
Hereditary Sensory and Autonomic Neuropathies
Dystonia 17, Torsion, Autosomal Recessive
Porokeratosis, Disseminated Superficial Actinic, 4
Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Recessive
Porokeratosis, Disseminated Superficial Actinic, 3
Birk-Barel Mental Retardation Dysmorphism Syndrome
Ichthyosis, Congenital, Autosomal Recessive, Ichthyin-Related
Diastasis Recti And Weakness Of The Linea Alba
Paroxysmal Exertion-Induced Dyskinesia And Hemolytic Anemia
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Isolated Growth Hormone Deficiency, Type IB
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive
Spastic Paraplegia 18, Autosomal Recessive
Growth Hormone Deficiency With Pituitary Anomalies
Rhabdoid Tumor Predisposition Syndrome 2
Bifid Nose With Or Without Anorectal And Renal Anomalies
Diarrhea 5, With Tufting Enteropathy, Congenital
Polymicrogyria With Optic Nerve Hypoplasia
Inflammatory Bowel Disease 28, Autosomal Recessive
Epilepsy, Benign Neonatal, 1, And/Or Myokymia
Hypotrichosis And Recurrent Skin Vesicles
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis
46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular Fibrillation, Paroxysmal Familial, 1
Cutis Laxa, Autosomal Recessive, Type IIB
Xeroderma Pigmentosum, Complementation Group C
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
6q24-Related Transient Neonatal Diabetes Mellitus
Distal Hereditary Motor Neuropathy, Type Ii
Hereditary Diffuse Leukoencephalopathy with Spheroids
Monoclonal Gammopathy of Undetermined Significance
Pneumonia, Atypical Interstitial, of Cattle
Sudden unexpected nocturnal death syndrome
Diarrhea prodrome + Hemolytic-Uremic Syndrome
Incontinentia pigmenti, familial male-lethal type
Lissencephaly and agenesis of corpus callosum
Severe combined immunodeficiency due to adenosine deaminase deficiency
Wallerian degeneration of the pyramidal tract
Prieto X-linked mental retardation syndrome
Autosomal dominant compelling helio ophthalmic outburst syndrome
Choroid plexus calcification with mental retardation
Epidermolysis bullosa with pyloric atresia
Arthrogryposis multiplex congenita, distal type 1
Arthrogryposis multiplex congenita, distal type 2
Arthrogryposis multiplex with deafness, inguinal hernias, and early death
Arthrogryposis renal dysfunction cholestasis syndrome
Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies
Arthrogryposis-like hand anomaly and sensorineural deafness
Gamma aminobutyric acid transaminase deficiency
Bile acid synthesis defect, congenital, 1
Bile acid synthesis defect, congenital, 2
Chromosomes 1 and 2, monosomy 2q duplication 1p
Corneal dystrophy and perceptive deafness
Corneal Dystrophy, Crystalline, of Schnyder
Corneal dystrophy of Bowman layer, type 1
Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
Infantile convulsions and paroxysmal choreoathetosis, familial
Pelvic dysplasia arthrogryposis of lower limbs
Abidi X-linked mental retardation syndrome
Cardioauditory syndrome of Sanchez Cascos
Carnitine palmitoyl transferase 1A deficiency
Hand and foot deformity with flat facies
Familial anomalous origin of right pulmonary artery
Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 2
Malignant hyperthermia susceptibility type 3
Malignant hyperthermia susceptibility type 4
Malignant hyperthermia susceptibility type 5
Malignant hyperthermia susceptibility type 6
Mandibuloacral dysplasia with type A lipodystrophy
Mandibuloacral dysplasia with type B lipodystrophy
Neuropathy, congenital, with arthrogryposis multiplex
Duodenojejunal atresia with volvulus, absent dorsal mesentery and absent superior mesenteric artery
Muscular dystrophy, tardive Emery-Dreifuss type, with contractures
Congenital disorder of glycosylation type 1X
Congenital ectodermal dysplasia with hearing loss
Congenital myasthenic syndrome with episodic apnea
Mental retardation, X-linked, syndromic 5
Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
Pierre Robin syndrome with fetal chondrodysplasia
Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism
Spondylometaphyseal dysplasia with dentinogenesis imperfecta
Amyloidosis, Cerebral, with Spongiform Encephalopathy
Pseudoinflammatory fundus dystrophy, Finnish type
Heart defect, tongue hamartoma and polysyndactyly
Chondrocalcinosis due to Apatite crystal deposition
Coloboma of Alar-nasal cartilages with telecanthus
Coloboma, cleft lip/palate and mental retardation syndrome
Acanthosis nigricans muscle cramps acral enlargement
Achondroplasia and Swiss type agammaglobulinemia
Medium chain acyl CoA dehydrogenase deficiency
Osteopetrosis and infantile neuroaxonal dystrophy
Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency
Ichthyosis follicularis atrichia photophobia syndrome
Myasthenic syndrome, congenital, type Id
Myasthenic syndrome, congenital, postsynaptic slow-channel
Mycobacterium tuberculosis, susceptibility to infection by
Non functioning pancreatic endocrine tumor
Keratosis palmoplantaris with esophageal cancer
Ectodermal dysplasia, hidrotic, Christianson-Fourie type
Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
Ectodermal dysplasia, ectrodactyly, and macular dystrophy
Pyogenic arthritis, pyoderma gangrenosum, and acne
Ichthyosis tapered fingers midline groove up
Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis, mental retardation, dwarfism, and renal impairment
Idiopathic basal ganglia calcification, childhood onset
Male sterility due to Y-chromosome deletions
Patterned dystrophy of retinal pigment epithelium
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Polyostotic osteolytic dysplasia, hereditary expansile
Porokeratosis punctata palmaris et plantaris
Porokeratosis, disseminated superficial actinic 1
Aniridia cerebellar ataxia mental deficiency
Neuraminidase deficiency with beta-galactosidase deficiency
Split-hand/foot malformation with long bone deficiency
Coronal synostosis, syndactyly and jejunal atresia
Thiamine responsive megaloblastic anemia syndrome
Ventricular extrasystoles perodactyly Robin sequence
Bor-Duane hydrocephalus contiguous gene syndrome
Arthrogryposis multiplex congenita neurogenic type
Periodic fever, familial, autosomal dominant
Wilson-Turner X-linked mental retardation syndrome
X-linked mental retardation Gustavson type
Aplasia cutis congenita of limbs recessive
Spastic paraplegia 25, autosomal recessive
Spinal muscular atrophy with respiratory distress 1
Taurodontism, microdontia, and dens invaginatus
Alopecia contractures dwarfism mental retardation
Alopecia epilepsy oligophrenia syndrome of Moynahan
Alopecia, epilepsy, pyorrhea, mental subnormality
Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
Optic nerve hypoplasia, familial bilateral
Ossification of the posterior longitudinal ligament of the spine
Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 2
Lethal congenital contracture syndrome 1
Sacral hemangiomas multiple congenital abnormalities
Prostatic stromal proliferation of uncertain malignant potential
Autosomal Dominant Lateral Temporal Lobe Epilepsy
Splenogonadal fusion limb defects micrognatia
Microcephalic osteodysplastic primordial dwarfism, type 3
Mesomelic dwarfism Reinhardt Pfeiffer type
Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands
Metaphyseal undermodeling, spondylar dysplasia, and overgrowth
Ichthyosiform erythroderma, corneal involvement, deafness
Neuroaxonal dystrophy renal tubular acidosis
Neuropathy ataxia and retinis pigmentosa
Arhinia, choanal atresia, and microphthalmia
Aromatic amino acid decarboxylase deficiency
Mental retardation, macrocephaly, short stature and craniofacial dysmorphism
Minicore myopathy, antenatal onset, with arthrogryposis
Micromelic dysplasia, congenital, with dislocation of radius
Microcephalic osteodysplastic primordial dwarfism, type 1
Severe combined immunodeficiency with sensitivity to ionizing radiation
Short chain Acyl CoA dehydrogenase deficiency
Basal ganglia calcification, idiopathic 2
Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism
Juvenile macular degeneration and hypotrichosis
Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
Aortic arch anomaly with peculiar facies and mental retardation
Aplasia cutis congenita intestinal lymphangiectasia
Macular dystrophy, retinal, 1, North Carolina type
Nonmedullary thyroid carcinoma, with or without cell oxyphilia
Chondrodysplasia, acromesomelic, with genital anomalies
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
Camptodactyly joint contractures and facial skeletal dysplasia
Camptodactyly syndrome Guadalajara type 2
Ectodermal dysplasia alopecia preaxial polydactyly
Ectodermal dysplasia mental retardation syndactyly
Pancreatic beta cell agenesis with neonatal diabetes mellitus
Supraumbilical midabdominal raphe and facial cavernous hemangiomas
Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch
Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia
Prader-Willi habitus, osteopenia, and camptodactyly
Holoprosencephaly, recurrent infections, and monocytosis
Inclusion body myopathy, autosomal dominant
Hypertelorism with esophageal abnormality and hypospadias
Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
Arthrogryposis multiplex congenita whistling face
Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures
Sarcoma family syndrome of Li and Fraumeni
Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome
Lymphedema of the lower extremities, recurrent pneumonia, bronchiectasis, and yellowed nails
Deafness with Labyrinthine Aplasia Microtia and Microdontia (LAMM)
Progressive Transformation of Germinal Centers
Deficiency of interleukin-1 receptor antagonist
Immune dysfunction with T-cell inactivation due to calcium entry defect 1
Immune dysfunction with T-cell inactivation due to calcium entry defect 2
Recurrent spontaneous hypothermia with hypoplasia of the corpus callosum
Xeroderma Pigmentosum, Complementation Group B
Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group F
Xeroderma Pigmentosum, Complementation Group G
Cutis Laxa, Autosomal Recessive, Type IIA
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
Corneal Dystrophy, Posterior Polymorphous, 1
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus
Hypophosphatemic Rickets with Hypercalciuria, Hereditary
Pulmonary Atresia with Intact Ventricular Septum
Ichthyosis Congenita With Biliary Atresia
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness
Pulmonic Stenosis and Congenital Nephrosis
Glycinuria with or without Oxalate Urolithiasis
Preterm Premature Rupture of the Membranes
Multiple Epiphyseal Dysplasia with Robin Phenotype
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
Agammaglobulinemia, Non-Bruton Type, Autosomal Dominant
Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density
Sebaceous Nevus Syndrome and Hemimegalencephaly
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs
Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia
Ectodermal Dysplasia with Natal Teeth, Turnpenny Type
Hypocalcemia, Autosomal Dominant, with Bartter Syndrome
Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Neg
Neuronopathy, Distal Hereditary Motor, Type V
Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency
Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias
Myotonic Myopathy with Cylindrical Spirals
Myopathy with Storage of Glycoproteins and Glycosaminoglycans
Neuropathy, Distal Hereditary Motor, Type IIA
Neuropathy, Distal Hereditary Motor, Type VIIA
Cerebellar Granule Cell Hypertrophy and Megalencephaly
Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type
Macular Dystrophy, Fenestrated Sheen Type
Keratosis Palmaris et Plantaris with Clinodactyly
Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency
Spastic Paraplegia, Optic Atrophy, and Neuropathy
Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula
Epiphyseal Dysplasia, Multiple, with Miniepiphyses
Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia
Rhabdoid Tumor Predisposition Syndrome 1
Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak
Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum
Corneal Dystrophy, Posterior Polymorphous, 3
Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Pos
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Def
Robin Sequence with Distinctive Facial Appearance and Brachydactyly
Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia
Congenital Corneal Opacities, Cornea Guttata, and Corectopia
Aplasia Cutis Congenita with Epibulbar Dermoids
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only
Spinal Muscular Atrophy, Distal, Congenital Nonprogressive
Hyperparathyroidism, Primary, Caused By Water Clear Cell Hyperplasia
Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies
Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease
Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA
Thrombocytopenia with Elevated Serum Iga and Renal Disease
Pierre Robin Sequence with Facial and Digital Anomalies
Mental Retardation associated with Psoriasis
Indifference to Pain, Congenital, Autosomal Dominant
Hyperthermia, Cutaneous, With Headaches And Nausea
Hyperpigmentation of Fuldauer and Kuijpers
Palmoplantar Keratoderma, Epidermolytic, with Knuckle Pads
Hemolytic Poikilocytic Anemia due to Reduced Ankyrin Binding Sites
Progressive Familial Heart Block, Type II
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation
Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to
Glutathione Reductase, Hemolytic Anemia due to Deficiency of, in Red Cells
Glaucoma with Elevated Episcleral Venous Pressure
Giant Platelet Syndrome with Thrombocytopenia
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism
Coronary Artery Disease, Autosomal Dominant, 1
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnorm
Campomelic Dysplasia with Autosomal Sex Reversal
Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux
Hypotrichosis, Localized, Autosomal Recessive 1
Neuronopathy, Distal Hereditary Motor, Type Viib
Lethal Congenital Contracture Syndrome 2
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies
Brain Small Vessel Disease with Hemorrhage
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, Type 2
Holoprosencephaly with Fetal Akinesia/Hypokinesia Sequence
Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia
Cubitus Valgus with Mental Retardation and Unusual Facies
Mental Retardation, X-Linked, with Epilepsy
Hyper-IgM Immunodeficiency, X-Linked, with Ectodermal Dysplasia, Hypohidrotic
Mental Retardation, X-Linked, Syndromic 10
Cortical Dysplasia of Taylor without Balloon Cells
Cholesteryl Ester Transfer Protein Deficiency
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Myasthenia Gravis with Thymus Hyperplasia
Pulmonary Disease, Chronic Obstructive, Severe Early-Onset
Dyskinesia, Familial, with Facial Myokymia
Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects
Xeroderma Pigmentosum, Complementation Group E
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Chondrodysplasia Punctata with Coagulation Factor Deficiency
Methylmalonic Aciduria and Homocystinuria, CblD Type
Methylmalonic Aciduria and Homocystinuria, CblF Type
Ulnar Agenesis and Endocardial Fibroelastosis
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Spondyloepiphyseal Dysplasia Tarda with Mental Retardation
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Spinal Muscular Atrophy with Mental Retardation
Skeletal Dysplasia with Telangiectases and Mesodermal Dysgenesis of the Iris
Retinal Dystrophy, Reticular Pigmentary, of Posterior Pole
Polydactyly, Postaxial, with Dental and Vertebral Anomalies
Pancreatitis, Sclerosing Cholangitis, and Sicca Complex
Pallidal Degeneration, Progressive, with Retinitis Pigmentosa
Osteomalacia, Sclerosing, with Cerebral Calcification
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Neutropenia, Lethal Congenital, with Eosinophilia
Minicore Myopathy with External Ophthalmoplegia
Myasthenia, Congenital, Refractory to Acetylcholinesterase Inhibitors
Muscular Dystrophy, Congenital, Producing Arthrogryposis
Fundus Dystrophy, Pseudoinflammatory, Of Sorsby
Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia
Familial Multiple Coagulation Factor Deficiency VI
Factors VIII, IX And XI, Combined Deficiency of
Familial Multiple Coagulation Factor Deficiency II
Familial Multiple Coagulation Factor Deficiency IV
Exostoses with Anetodermia and Brachydactyly, Type E
Epidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase
Myeloproliferative Disorder, Chronic, with Eosinophilia
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8
Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature
Deafness with Anhidrotic Ectodermal Dysplasia
Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease
Spondylocostal Dysostosis 4, Autosomal Dominant
Corneal Degeneration, Ribbonlike, with Deafness
Coloboma, Uveal, with Cleft Lip and Palate and Mental Retardation
Corneal Dystrophy, Posterior Polymorphous, 2
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Split-Hand/Foot Malformation With Long Bone Deficiency 2
Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy
Microphthalmia, Isolated, with Coloboma 2
Thyroid Carcinoma, Papillary, With Papillary Renal Neoplasia
Inclusion Body Myopathy 3, Autosomal Dominant
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy
Molybdenum Cofactor Deficiency, Complementation Group A
Molybdenum Cofactor Deficiency, Complementation Group B
Molybdenum Cofactor Deficiency, Complementation Group C
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport
Microphthalmia, Isolated, with Coloboma 4
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia
Methylmalonyl-CoA Epimerase Deficiency with Sepiapterin Reductase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa
Marfanoid Mental Retardation Syndrome, Autosomal
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome
Limb Deficiencies, Distal, with Micrognathia
Limb Defects, Distal Transverse, with Mental Retardation and Spasticity
Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis
Keratoderma, Palmoplantar, Norrbotten Recessive Type
Indolylacroyl Glycinuria with Mental Retardation
Ichthyosis, Split Hairs, and Amino Aciduria
Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hemolytic Anemia with Thermal Sensitivity of Red Cells
Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to
Fibromatosis, Gingival, with Distinctive Facies
Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation
Epidermolysis Bullosa With Diaphragmatic Hernia
Endocardial Fibroelastosis and Coarctation of Abdominal Aorta
Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum
Ectodermal Dysplasia and Neurosensory Deafness
Dwarfism, Proportionate, with Hip Dislocation
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant
Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification
Deafness, Neural, with Atypical Atopic Dermatitis
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities
Cortical Blindness, Retardation, and Postaxial Polydactyly
Contractures, Congenital, Torticollis, and Malignant Hyperthermia
Coloboma of Macula and Skeletal Anomalies
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism
Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and A
Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardat
Mandibulofacial Dysostosis Syndrome, Bauru Type
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3
Myasthenic Syndrome due to Mutation in SCN4A
Autoimmune Lymphoproliferative Syndrome, Type IIA
Vanishing White Matter Leukodystrophy with Ovarian Failure
Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
Beta-Aminoisobutyric Acid, Urinary Excretion of
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification
Bare Lymphocyte Syndrome, Type II, Complementation Group A
Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death
Ataxia with Myoclonic Epilepsy and Presenile Dementia
Asthma, Nasal Polyps, And Aspirin Intolerance
Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies
Amyotrophic Lateral Sclerosis, Juvenile, with Dementia
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Transient Myeloproliferative Disorder of Down Syndrome
Chiari Malformation Type I with Syringomyelia
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
Cervical Hypertrichosis with Underlying Kyphoscoliosis
Carabelli Anomaly of Maxillary Molar Teeth
Atrial Tachyarrhythmia with Short PR Interval
Atrial Septal Defect with Atrioventricular Conduction Defects
Arteritis, Familial Granulomatous, with Juvenile Polyarthritis
Apolipoprotein E, Deficiency or Defect of
Dysbetalipoproteinemia due to Defect in Apolipoprotein E-d
Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis
Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma
Spinal Arterial Venous Malformations with Cutaneous Hemangiomas
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Bile Acid Synthesis Defect, Congenital, 3
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation
Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema
Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss
Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects
Osebold Skeletal Dysplasia Osteolysis Syndrome
Diabetes Mellitus, Transient Neonatal, 3
Myasthenia, Limb-Girdle, with Tubular Aggregates
Microphthalmia, Isolated, with Coloboma 3
Short Stature And Facioauriculothoracic Malformations
Maturity-Onset Diabetes of the Young, Type 7
Combined Oxidative Phosphorylation Deficiency 3
Combined Oxidative Phosphorylation Deficiency 2
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly
Anal Atresia, Hypospadias, and Penoscrotal Inversion
Ectodermal Dysplasia, Hidrotic, Autosomal Recessive
Ichthyosis, Follicular Atrophoderma, Hypotrichosis, and Hypohidrosis
Progeroid Facial Appearance with Hand Anomalies
Ectodermal Dysplasia, Pure Hair-Nail Type
Hyperzincemia with Functional Zinc Depletion
Deafness, Congenital Heart Defects, and Posterior Embryotoxon
Autoimmune Lymphoproliferative Syndrome, Type IA
Autoimmune Lymphoproliferative Syndrome, Type IB
Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Recessive
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Leukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Split-Hand And Split-Foot With Hypodontia
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T-Helper Cells
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Spinal Muscular Atrophy, Facioscapulohumeral Type
Neuronopathy, Distal Hereditary Motor, Type I
Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease
Spastic Paraplegia, Optic Atrophy, And Dementia
Spastic Paraplegia With Associated Extrapyramidal Signs
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase
Reticular Dystrophy Of Retinal Pigment Epithelium
Multiple Pterygium Syndrome, Autosomal Dominant
Polyps, Multiple And Recurrent Inflammatory Fibroid, Gastrointestinal
Platelet Alpha/Delta Storage Pool Deficiency
Pheochromocytoma Islet Cell Tumor Syndrome
Pelvic Lipomatosis with Crossed Renal Ectopia
Xeroderma Pigmentosum, Type G/Cockayne Syndrome
Respiratory Distress Syndrome In Premature Infants
Humeroradial Synostosis with Craniofacial Anomalies
Microphthalmia, Isolated, with Coloboma 5
Renal Tubular Acidosis, Distal, With Hemolytic Anemia
Kallmann Syndrome 2 with Selective Tooth Agenesis
Hypotrichosis, Localized, Autosomal Recessive, 3
Lethal Congenital Contractural Syndrome 3
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
Progressive Familial Heart Block, Type Ib
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification
Coronary Artery Disease, Autosomal Dominant 2
Neuronopathy, Distal Hereditary Motor, Type IIB
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Combined Cellular And Humoral Immune Defects With Granulomas
Ectopia Lentis, Isolated, Autosomal Recessive
Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech
Palmoplantar Hyperkeratosis And True Hermaphroditism
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Split-Hand/Foot Malformation With Long Bone Deficiency 3
Inflammatory Bowel Disease 25, Autosomal Recessive
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Lysosomal Storage Diseases, Nervous System
Ovotesticular Disorders of Sex Development
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Corneal Dystrophy, Juvenile Epithelial of Meesmann
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
Sex Chromosome Disorders of Sex Development
AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1
CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT
SPONDYLOCOSTAL DYSOSTOSIS 5, AUTOSOMAL DOMINANT
EPSTEIN-BARR VIRUS INSERTION SITE 1;EBVS1 EPSTEIN-BARR VIRUS INTEGRATION SITE
THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION
NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO
ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED
GRAVES DISEASE, SUSCEPTIBILITY TO, X-LINKED 1
THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2
HYPOSPADIAS 4, X-LINKED, SUSCEPTIBILITY TO
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
THYROID CARCINOMA, NONMEDULLARY, SUSCEPTIBILITY TO, 1
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 3
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POS
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 4
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 5
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
POROKERATOSIS 6, DISSEMINATED SUPERFICIAL ACTINIC TYPE
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 12
MONONEUROPATHY OF THE MEDIAN NERVE, MILD
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3
SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY
CHROMOSOME 7q11.23 DELETION SYNDROME, DISTAL, 1.2-MB
Lead Poisoning, Nervous System, Childhood
Hemangioma, Cavernous, Central Nervous System
Classical Lissencephalies and Subcortical Band Heterotopias
46, XX Testicular Disorders of Sex Development
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS
SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT
SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1
MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE
EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE
SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE
DIABETES MELLITUS, INSULIN-DEPENDENT, X-LINKED, SUSCEPTIBILITY TO
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 11
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 8
MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE
CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2
FASTING INSULIN LEVEL QUANTITATIVE TRAIT LOCUS 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1
SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 2
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE
MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 7
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2
SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE
MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE
SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6
SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 3
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 4
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 6
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7
SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 4
SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 5
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 13
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14
MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 8
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2
METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 8
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 16
RIV immunoglobulin variant protein, human
Neutropenia and hyperlymphocytosis with large granular lymphocytes
Ascending aortic aneurysm, hypertelorism, bifid uvula, cleft palate, and arterial tortuosity
Kidney disorder involving deposition of calcium and oxalate or phosphate in the renal tubules
Endemic treponematosis caused by Treponema carateum
Idiopathic intracranial hypertension with papilledema
Congenital agenesis of the tricuspid valve
Primary angiitis of the central nervous system
46,XX Gonadal dysgenesis epibulbar dermoid
Cerebellar hypoplasia with endosteal sclerosis
Chorea, remitting with nystagmus and cataracts
Congenital thrombotic disease, due to Protein C deficiency
Congenitally corrected transposition of the great arteries
Bile acid synthesis defect, congenital, 4
Convulsions benign familial neonatal dominant form
Corneal dystrophy, epithelial basement membrane
Corneal dystrophy, Fuchs' endothelial, 1
Corneal dystrophy, Fuchs' endothelial, 2
Male pseudohermaphroditism due to defective LH molecule
Neuropathy, hereditary motor and sensory, Okinawa type
Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1C
Congenital disorder of glycosylation type 1D
Congenital disorder of glycosylation type 1E
Congenital disorder of glycosylation type 1F
Congenital disorder of glycosylation type 1G
Congenital disorder of glycosylation type 1H
Congenital disorder of glycosylation type II
Congenital disorder of glycosylation type 1J
Congenital disorder of glycosylation type 1K
Congenital disorder of glycosylation type 1L
Congenital disorder of glycosylation type 2D
Congenital disorder of glycosylation type 2E
Congenital disorder of glycosylation, type 2C
Congenital disorder of glycosylation, type 2G
Dandy Walker malformation postaxial polydactyly
Neuropathy, hereditary motor and sensory, Russe type
Rokitansky-Aschoff sinuses of the gallbladder
Cholestasis, progressive familial intrahepatic 1
Cholestasis, progressive familial intrahepatic 2
Cholestasis, progressive familial intrahepatic 3
Desmoplastic cerebral astrocytoma of infancy
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
Epidermolysis bullosa dystrophica, Pasini type
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Ogna type
Cone rod dystrophy amelogenesis imperfecta
Diffuse palmoplantar keratoderma, Bothnian type
Ehlers-Danlos syndrome caused by tenascin-X deficiency
Ehlers-Danlos syndrome, Beasley Cohen type
Ehlers-Danlos syndrome, cardiac valvular form
Noninsulin-dependent diabetes mellitus with deafness
Partington X-linked mental retardation syndrome
Patella aplasia, coxa vara, tarsal synostosis
Posterior column ataxia with retinitis pigmentosa
Uniparental disomy, paternal, chromosome 14
Craniometaphyseal dysplasia, autosomal recessive type
Alzheimer's disease without Neurofibrillary tangles
Spastic paraplegia epilepsy mental retardation
Muscular atrophy, spinal, infantile chronic form
Ulnar hypoplasia lobster claw deformity of feet
Tracheal agenesis without tracheoesophageal fistula
Transient bullous dermolysis of the newborn
Sensorimotor neuropathy with ataxia, autosomal dominant
Granulomatous Angiitis of the Central Nervous System
Spinocerebellar ataxia, autosomal recessive 1
Spinocerebellar ataxia, autosomal recessive 3
Spinocerebellar ataxia, autosomal recessive 4
Spinocerebellar ataxia, autosomal recessive 5
Spinocerebellar ataxia, autosomal recessive 6
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
Multiple system atrophy (MSA) with orthostatic hypotension
Muscular dystrophy congenital, merosin negative
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
Mental retardation Smith Fineman Myers type
Mental retardation syndrome, Belgian type
Spastic paraplegia 14, autosomal recessive
Microcephaly sparse hair mental retardation seizures
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Keratosis palmoplantaris with periodontopathia and onychogryposis
Nystagmus 2, congenital, autosomal dominant
Nystagmus 3, congenital, autosomal dominant
Nystagmus 4, congenital, autosomal dominant
Fibular hypoplasia and complex brachydactyly
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
Candidiasis familial chronic mucocutaneous, autosomal recessive
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia
Fuchs atrophia gyrata chorioideae et retinae
Chromosome 1, uniparental disomy 1q12 q21
Hirschsprung disease polydactyly heart disease
Deafness, congenital onychodystrophy, recessive form
Dentinogenesis imperfecta, shields type 3
Hirschsprung disease type d brachydactyly
Inclusion body myopathy autosomal recessive
Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth
Supravalvar aortic stenosis, eisenberg type
Dilated cardiomyopathy, neutropenia, skeletal myopathy, and abnormal mitochondria
Subvalvular aortic stenosis, Eisenberg type
Hyperostosis frontalis interna, obesity, shortness and cognitive impairment
Pericardial constriction with growth failure
Hyperkeratosis of the palms and soles and esophageal papillomas
Amoebic dysentery due to Entamoeba histolytica
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Lipodystrophy, Congenital Generalized, Type 3
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome
Coloboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine Abnormalities
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Recessive
Generalized Epilepsy With Febrile Seizures Plus, Type 6
Crouzon Syndrome With Acanthosis Nigricans
Maturity-Onset Diabetes Of The Young, Type 9
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital Disorder Of Glycosylation, Type In
Camptodactyly Syndrome, Guadalajara, Type III
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Mental Retardation, X-Linked, Syndromic 9
Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
Lipodystrophy, Congenital Generalized, Type 4
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Tsc2 Angiomyolipomas, Renal, Modifier Of
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Amyotrophic Lateral Sclerosis 6, Autosomal Recessive
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Mental Retardation, Autosomal Recessive 13
Convulsions, Benign Familial Neonatal, 1, And/Or Myokymia
Epilepsy, Benign Neonatal, 1, Atypical Severe
Convulsions, Benign Familial Neonatal, 1, Atypical Severe
Generalized Epilepsy With Febrile Seizures Plus, 7
Congenital Disorder of Glycosylation, Type Io
Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant
Lactic Acidosis, Congenital Infantile, Due To LAD Deficiency
Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia
Familial Acute Myeloid Leukemia with Mutated Cebpa
Anemia, Refractory, with Excess of Blasts
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Epidermolysis Bullosa, Junctional, Non-Herlitz Type
Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type
Bundle Branch Block, Familial Isolated Complete Right
Diabetes Mellitus, Type Ii, Autosomal Dominant
Pulmonary Atresia With Ventricular Septal Defect
Congenital Disorder Of Glycosylation, Type I/IIX
Hereditary Motor And Sensory Neuropathy VI
Male Infertility with Large-Headed, Multiflagellar, Polyploid Spermatozoa
Craniofacial Dysostosis with Diaphyseal Hyperplasia
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type
Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, Autosomal Dominant
Epilepsy, Myoclonic, Benign Adult Familial, Type 1
Epidermolysis Bullosa Simplex, Autosomal Recessive
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Maturity-Onset Diabetes of the Young, Type 4
Optic Atrophy with Negative Electroretinograms
Optic Atrophy with Demyelinating Disease of CNS
Ophthalmoplegia, Familial Total, with Iris Transillumination
Sick Sinus Syndrome 2, Autosomal Dominant
Myopathy, Actin, Congenital, with Excess of Thin Myofilaments
Necrotizing Encephalomyelopathy, Subacute, of Leigh, Adult
Continuous Muscle Fiber Activity, Hereditary
Myoclonus, Cerebellar Ataxia, and Deafness
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
Coronary Artery Disease, Development of, in HIV
Kallmann Syndrome 2 with Cleft Lip or Palate
Kallmann Syndrome 2 with Bimanual Synkinesia
Congenital Disorder Of Glycosylation, Type Im
Spastic Paraplegia 30, Autosomal Recessive
Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 2
Generalized Epilepsy and Paroxysmal Dyskinesia
Spastic Paraplegia 28, Autosomal Recessive
Arrhythmogenic Right Ventricular Dysplasia, Familial, 7
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Transposition of the Great Arteries, Dextro-Looped 1
Sudden Infant Death with Dysgenesis of the Testes Syndrome
Neuropathy, Hereditary Sensory and Autonomic, Adult-Onset, with Anosmia
Microcephaly, Primary Autosomal Recessive, 5
Ulnar/Fibular Ray Defect and Brachydactyly
Sick Sinus Syndrome 1, Autosomal Recessive
Mental Retardation, Autosomal Recessive 3
Maturity-Onset Diabetes of the Young, Type 3
Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal IV
Venous Malformations, Multiple Cutaneous and Mucosal
Retinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium
Bladder Exstrophy and Epispadias Complex
Pyruvate Dehydrogenase E1 Alpha Deficiency
Optic Atrophy Spastic Paraplegia Syndrome
Mental Retardation with Spastic Paraplegia
Jaundice, Familial Obstructive, of Infancy
Orthostatic Hypotensive Disorder, Streeten Type
Granulomatous Disease, Chronic, Autosomal Dominant Type
Maturity-Onset Diabetes of the Young, Type 2
Microcephaly, Primary Autosomal Recessive, 6
Slowed Nerve Conduction Velocity, Autosomal Dominant
Pseudoxanthoma Elasticum, Modifier Of Severity Of
Diabetes Mellitus, Noninsulin-Dependent, Type 4
Epilepsy, Myoclonic, Benign Adult Familial, Type 2
Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia
Noonan-Like Syndrome With Loose Anagen Hair
Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia, Ataxia, And Mental Retardation
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Mental Retardation, Autosomal Recessive 2
Hypouricemia, Familial Renal, due to Tubular Hypersecretion
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate
Radioulnar Synostosis, Radial Ray Abnormalities, and Severe Malformations in the Male
Noncompaction of Left Ventricular Myocardium, Familial Isolated, X-Linked
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Epilepsy, Partial, with Pericentral Spikes
Congenital Disorder Of Glycosylation, Type IIID
Ichthyosis, X-Linked, without Steroid Sulfatase Deficiency
Wolman Disease with Hypolipoproteinemia and Acanthocytosis
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet
Sucrosuria, Hiatus Hernia and Mental Retardation
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation
Spastic Paraplegia With Myoclonic Epilepsy
Epilepsy, Benign Neonatal, Autosomal Recessive
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Retinitis Pigmentosa Inversa with Deafness
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
Pseudohermaphroditism, Female, with Skeletal Anomalies
Prolactin Deficiency with Obesity and Enlarged Testes
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive
Nystagmus, Congenital Motor, Autosomal Recessive
Neurovisceral Storage Disease with Curvilinear Bodies
Neuropathy, Hereditary Motor and Sensory, with Excessive Myelin Folding Complex, Autosomal Recessive
Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive
Myotonia with Skeletal Abnormalities and Mental Retardation
Muscular Dystrophy, Congenital, with Rapid Progression
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness
Familial Mediterranean Fever, Autosomal Dominant
Facial Palsy, Familial Recurrent Peripheral
Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency
Maturity-Onset Diabetes of the Young, Type 1
Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome
Congenital Disorder Of Glycosylation, Type IIB
Cardiomyopathy, Dilated, with Left Ventricular Noncompaction
Tetralogy Of Fallot Syndrome, Autosomal Recessive
Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1
Microcephaly, Primary Autosomal Recessive, 1
Mental Retardation, Autosomal Recessive 1
Marfanoid Habitus with Microcephaly and Glomerulonephritis
Maple Syrup Urine Disease, E3 Deficient, with Lactic Acidosis
Mandibulofacial Dysostosis with Mental Deficiency
Lymphoblastic Leukemia, Acute, with Lymphomatous Features
Leukemia, Acute Myelocytic, with Polyposis Coli and Colon Cancer
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria
Muscular Dystrophy, Congenital, plus Mental Retardation
Muscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Re
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type
Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defe
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
Granulomatous Disease with Defect in Neutrophil Chemotaxis
Ehlers-Danlos Syndrome VI Phenotype with Macrocephaly
Familial Multiple Coagulation Factor Deficiency I
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation
Cleft Lip with or without Cleft Palate, Nonsyndromic, 7
Deafness, Congenital, with Vitiligo and Achalasia
Deafness, Congenital, and Familial Myoclonic Epilepsy
Cystic Kidney Disease with Ventriculomegaly
Craniosynostosis Mental Retardation Clefting Syndrome
Convulsive Disorder, Familial, with Prenatal or Early Onset
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Microcephaly, Primary Autosomal Recessive, 3
Polyneuropathy, Lethal Neonatal, Axonal Sensorimotor, Autosomal Recessive
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Lissencephaly, Familial, with Cleft Palate and Cerebellar Hypoplasia
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies
Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia
Microcephaly, Primary Autosomal Recessive, 4
Microcephaly, Primary Autosomal Recessive, 2
Hemosiderosis, Systemic, due to Aceruloplasminemia
Generalized Epilepsy with Febrile Seizures Plus
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized Epilepsy With Febrile Seizures Plus, Type 3
Generalized Epilepsy With Febrile Seizures Plus, Type 5
Febrile Seizures Associated with Afebrile Seizures
Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 1
Spinocerebellar Ataxia, Autosomal Recessive 2
Cerebellar Ataxia, Benign, with Thermoanalgesia
Cardiac Septal Defects with Coarctation of the Aorta
Brachydactyly, Type A2, With Microcephaly
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic Lateral Sclerosis 2, Juvenile
Vertebral Hypoplasia With Lumbar Kyphosis
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Re
Tremor of Intention, Ataxia, and Lipofuscinosis
Thrombophilia due to Activated Protein C Resistance
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly
Symphalangism with Multiple Anomalies of Hands and Feet
Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly
Minicore Myopathy, Moderate, with Hand Involvement
Cavernous Malformations of CNS and Retina
Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Frontotemporal Dementia With Motor Neuron Disease
Amyotrophic Lateral Sclerosis, Autosomal Recessive
Amelia and Terminal Transverse Hemimelia
Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
Microcephaly with Simplified Gyral Pattern
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia
Osteosclerotic Chondrodysplasia, Lethal, With Intracellular Inclusions
Muscular Dystrophy, Congenital, With Cerebellar Atrophy
Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal
Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Scaphocephaly, Maxillary Retrusion, And Mental Retardation
Microcephaly, Macrotia, And Mental Retardation
Muscular Dystrophy, Congenital, Megaconial Type
Pseudoacromegaly with Severe Insulin Resistance
Amyotrophic Lateral Sclerosis 4, Juvenile
Ventriculomegaly With Defects Of The Radius And Kidney
Nephropathy, Progressive Tubulointerstitial, with Cholestatic Liver Disease
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Parietal Foramina With Cleidocranial Dysplasia
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Mental Retardation, Autosomal Dominant 1
Spastic Paraplegia 32, Autosomal Recessive
Congenital Disorder Of Glycosylation, Type IIH
Cleft Palate, Isolated, And Mental Retardation
Tooth Agenesis, Selective, With Orofacial Cleft
Hypodontia Oligodontia with Orofacial Cleft
Mental Retardation, Autosomal Recessive 4
Deafness, Sensorineural, And Male Infertility
Mental Retardation, Autosomal Recessive 11
Mental Retardation, Autosomal Recessive 10
Mental Retardation, Autosomal Recessive 9
Mental Retardation, Autosomal Recessive 8
Mental Retardation, Autosomal Recessive 7
Mental Retardation, Autosomal Recessive 6
Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Recessive 12
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Congenital Disorder Of Glycosylation, Type IIF
Familial Cold Autoinflammatory Syndrome 2
Microcephaly with Mental Retardation and Digital Anomalies
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant
Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive
Camptodactyly Syndrome, Guadalajara, Type Ii
Anemia, Hypochromic Microcytic, With Iron Overload
Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive
Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Dandy-Walker Malformation With Occipital Cephalocele, Autosomal Dominant
Best Vitelliform Macular Dystrophy, Multifocal
Microcephaly, Primary Autosomal Recessive, 7
Microcephaly, Primary Autosomal Recessive, 5, with Simplified Gyral Pattern
Convulsions, Benign Familial Infantile, 4
Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 4
Mental Retardation, Autosomal Dominant 3
Retinitis Pigmentosa 7 With Bull'S-Eye Maculopathy
Epidermolysis Bullosa Dystrophica With Subcorneal Cleavage
Epileptic Encephalopathy, Early Infantile, 3
Renal Failure, Progressive, with Hypertension
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness
Glomerulopathy with Giant Fibrillar Deposits
Membranous Obstruction of Inferior Vena Cava
Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related
Peroxisome Biogenesis Disorder, Complementation Group 4
Digeorge Syndrome/Velocardiofacial Syndrome Complex 2
Muscular Dystrophy, Limb-Girdle, Type 1C
Wiskott-Aldrich Syndrome, Autosomal Dominant Form
Ovalocytosis, Hereditary Hemolytic, with Defective Erythropoiesis
Multiple Exostoses with Spastic Tetraparesis
Lipoprotein Types--Lp System Lp(A) Hyperlipoproteinemia
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Epilepsy, Nocturnal Frontal Lobe, Type 4
Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2
Charcot-Marie-Tooth Disease, Axonal, Type 2A2
Spastic Paraplegia 27, Autosomal Recessive
Muscular Dystrophy, Limb-Girdle, Type 2J
Epilepsy, Nocturnal Frontal Lobe, Type 1
Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas
Peroxisome Biogenesis Disorder, Complementation Group 14
Peroxisome Biogenesis Disorder, Complementation Group J
Fanconi Anemia, Complementation Group D1
Leigh Syndrome Due To Mitochondrial Complex I Deficiency
Epileptic Encephalopathy, Early Infantile, 2
Mental Retardation, X-Linked, Syndromic, Ube2a-Related
Muscular Dystrophy, Hemizygous Lethal Type
Male Pseudohermaphroditism due to Deficiency of Testicular 17,20-Desmolase
Hyperlipoproteinemia, Type II, and Deafness
Charcot-Marie-Tooth Disease, Foot Deformity of
Muscular Dystrophy, Limb-Girdle, Type 1F
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Heterotopia, Periventricular, associated with Chromosome 5p Anomalies
Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2k
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis
Myopathy, Distal, With Early Respiratory Failure, Autosomal Dominant
Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined
Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth
Mental Retardation, X-Linked, Syndromic, Jarid1c-Related
Androgen Insensitivity Syndrome due to Coactivator Deficiency
Armfield X-Linked Mental Retardation Syndrome
Bartter Syndrome, Type 3, with Hypocalciuria
Spastic Paraplegia 7, Autosomal Recessive
Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures
Muscular Dystrophy, Limb-Girdle, Type 2I
Albinism, Oculocutaneous, Type I, Temperature-Sensitive
Friedreich Ataxia with Retained Reflexes
Myopathy, Distal, with Anterior Tibial Onset
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia
Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency
Spastic Paraplegia 5a, Autosomal Recessive
Olivopontocerebellar Atrophy II, Autosomal Recessive
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency
Pyloric Stenosis, Infantile Hypertrophic, 2
Spastic Paraplegia 31, Autosomal Dominant
Spastic Paraplegia 33, Autosomal Dominant
Deafness, Sensorineural, with Hypertrophic Cardiomyopathy
Parkinson Disease 7, Autosomal Recessive Early-Onset
Diamond-Blackfan Anemia With Microtia And Cleft Palate
Hereditary Motor And Sensory Neuropathy, Type IIC
Parkinson Disease 6, Autosomal Recessive Early-Onset
Convulsions, Benign Familial Infantile, 2
Parkinson Disease 4, Autosomal Dominant Lewy Body
Epilepsy, Nocturnal Frontal Lobe, Type 3
Hypopituitarism, Congenital, with Central Diabetes Insipidus
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
Estren-Dameshek Variant of Fanconi Anemia
Estren-Dameshek Variant of Fanconi Pancytopenia
Deafness, Congenital, with Total Albinism
Split-Hand/Foot Malformation With Sensorineural Hearing Loss
Craniosynostosis with Anomalies of the Cranial Base and Digits
North American Indian Childhood Cirrhosis
Cerebellar Ataxia, Deafness, and Narcolepsy
Cerebellar Ataxia and Neurosensory Deafness
BCG and Salmonella Infection, Disseminated
BCG Infection, Generalized Familial Semibenign, Autosomal Dominant
Anemia, Nonspherocytic Hemolytic, possibly due to Defect in Porphyrin Metabolism
Anemia, Nonspherocytic Hemolytic, associated with Abnormality of Red Cell Membrane
Neutropenia, Severe Congenital, Autosomal Dominant 1
Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency
Leukemia, Megakaryoblastic, of Down Syndrome
Triphalangeal Thumb with Double Phalanges
Tendons, Extensor, of Fingers, Anomalous Insertion of
Chylomicronemia, Familial, due to Circulating Inhibitor of Lipoprotein Lipase
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e
Charcot-Marie-Tooth Disease, Axonal, Type 2a1
Brachmann-De Lange-Like Facial Changes With Microcephaly, Metatarsus Adductus, And Developmental Del
Adenosine Triphosphatase Deficiency, Anemia Due To
Muscular Dystrophy, Limb-Girdle, Type 1D
Peroxisome Biogenesis Disorder, Complementation Group 9
Peroxisome Biogenesis Disorder, Complementation Group D
Epilepsy, Nocturnal Frontal Lobe, Type 2
Peroxisome Biogenesis Disorder, Complementation Group 12
Peroxisome Biogenesis Disorder, Complementation Group G
Peroxisome Biogenesis Disorder, Complementation Group 7
Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4
Giant Axonal Neuropathy, Autosomal Dominant
Visceral Neuropathy, Familial, Autosomal Dominant
Parkinson Disease 3, Autosomal Dominant Lewy Body
Peroxisome Biogenesis Disorder, Complementation Group 1
Peroxisome Biogenesis Disorder, Complementation Group E
Muscular Dystrophy, Limb-Girdle, Type 1E
Muscular Dystrophy, Limb-Girdle, Type 2G
Peroxisome Biogenesis Disorder, Complementation Group K
Peroxisome Biogenesis Disorder, Complementation Group 13
Peroxisome Biogenesis Disorder, Complementation Group H
Peroxisome Biogenesis Disorder, Complementation Group 3
Peroxisome Biogenesis Disorder, Complementation Group 11
Peroxisome Biogenesis Disorder, Complementation Group R
Spinocerebellar Atrophy With Pupillary Paralysis
Pyloric Stenosis, Infantile Hypertrophic 1
Prader-Willi-Like Syndrome Associated With Chromosome 6
Porphyria, Acute Intermittent, Nonerythroid Variant
Potter Type III Polycystic Kidney Disease
Paragangliomas with Sensorineural Hearing Loss
Mental Retardation, X-Linked, Syndromic 13
Mental Retardation, X-Linked, With Spasticity
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Renal Tubular Acidosis, Distal, With Normal Red Cell Morphology
Muscular Dystrophy, Limb-Girdle, Type 2M
Muscular Dystrophy, Limb-Girdle, Type 2L
Epilepsy, Childhood Absence, Susceptibility To, 4
Mental Retardation, X-Linked, Syndromic 14
Mental Retardation, X-Linked, With Brachydactyly And Macroglossia
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Deafness, Autosomal Recessive 36, Without Vestibular Involvement
Neutropenia, Severe Congenital, Autosomal Recessive 4
Spastic Paraplegia 42, Autosomal Dominant
Deafness, Autosomal Dominant, Due To Mutation In Myo1a
Tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes
Cystic dilatation of renal collecting tubes
Toxocara canis infection (canine roundworms)
Esophageal atresia with or without tracheoesophageal fistula
Charcot-Marie-Tooth disease, X-linked recessive, 2
Charcot-Marie-Tooth disease, X-linked recessive, 3
3-methylcrotonyl CoA carboxylase 1 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency
Charcot-Marie-Tooth disease, dominant intermediate 1
Charcot-Marie-Tooth disease, dominant intermediate 2
Charcot-Marie-Tooth disease, dominant intermediate 3
Carbamoyl phosphate synthase 1 deficiency
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
Neuropathy, hereditary motor and sensory, LOM type
Duodenal ulcer due to antral G-cell hyperfunction
Muscular dystrophy, limb-girdle, type 1A
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Mastocytosis, cutaneous, with short stature, conductive hearing loss and microtia
Osteopetrosis with renal tubular acidosis
Osteopetrosis, mild autosomal recessive form
Myopathy with lactic acidosis and sideroblastic anemia
Myopathy, limb-girdle, with bone fragility
Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2
Polycystic kidneys, severe infantile with tuberous sclerosis
Visceral myopathy familial external ophthalmoplegia
Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
Primary malignant melanoma of the cervix
Wilms tumor and radial bilateral aplasia
X-linked mental retardation type Wittwer
Craniosynostosis, sagittal, with Dandy-Walker malformation and hydrocephalus
Spastic paraplegia 19, autosomal dominant
Spastic paraplegia 20, autosomal recessive
Spastic paraplegia 26, autosomal recessive
Spastic paraplegia 29, autosomal dominant
Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 6, autosomal dominant
Spastic paraplegia 8, autosomal dominant
Spastic paraplegia with Kallmann syndrome
Albinism ocular late onset sensorineural deafness
Florid cystic endosalpingiosis of the uterus
Leiomyomatosis, esophageal and vulval, with nephropathy
Hereditary spastic paralysis, infantile onset ascending
Lamellar ichthyosis, autosomal dominant form
Cirrhosis, familial, with deposition of abnormal glycogen
Siderius X-linked mental retardation syndrome
Mental retardation X-linked, South African type
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
Miles-Carpenter x-linked mental retardation syndrome
Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 12, autosomal dominant
Spastic paraplegia 13, autosomal dominant
Plagiocephaly and X-linked mental retardation
Serpentine fibula polycystic kidney syndrome
Neutropenia, Severe Congenital, Autosomal Recessive 3
Short limb dwarf lethal Colavita Kozlowski type
Short rib-polydactyly syndrome, Beemer type
Short rib-polydactyly syndrome, Verma-Naumoff type
Lubs X-linked mental retardation syndrome
Omphalocele cleft palate syndrome lethal
Renal tubular acidosis, distal, autosomal recessive
Chromosome 8p deletion syndrome (partial)
Ceroid lipofuscinosis, neuronal 1, infantile
Camptodactyly syndrome Guadalajara type 1
Charcot Marie Tooth type 1 aplasia cutis congenita
Amelogenesis imperfecta local hypoplastic form
Amelogenesis imperfecta pigmented hypomaturation type
Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1
Clear-cell metastatic renal cell carcinoma
Hypogonadotropic hypogonadism and anosmia, autosomal dominant
Necrotizing encephalopathy, infantile subacute, of Leigh
Ichthyosiform erythroderma, Brocq congenital, nonbullous form
Papillary renal cell carcinoma, sporadic
Autosomal dominant diffuse Lewy body disease
Limb-girdle muscular dystrophy autosomal recessive
Hepatorenal form of glycogen storage disease
Charcot-Marie-Tooth disease, Type 4A, axonal form
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis
Vulvar dysesthesia localized in the vestibule
Mycobacterial disease, Mendelian susceptibility to
Parasitic infection caused by Dracunculus medinensis
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B
HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA
HUMAN PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 1
HUMAN PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 2
PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 1
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA
ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1
MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE)
MIGRAINE, FAMILIAL TYPICAL, SUSCEPTIBILITY TO, 2
MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, X-LINKED
MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE
AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 2
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1
CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 14
NEPHROLITHIASIS, URIC ACID, SUSCEPTIBILITY TO
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5
PARKINSON DISEASE 11, AUTOSOMAL DOMINANT
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR
MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 1
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1
PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B
MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4
EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 4
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7
MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 3
SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE
THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2
HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO
SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1H
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B
SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE
KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Pyloric Stenosis, Infantile Hypertrophic, 5
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant
Hepatoblastoma Caused By Somatic Mutation
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia
Spastic Paraplegia 38, Autosomal Dominant
Microtia, Hearing Impairment, And Cleft Palate
Epileptic Encephalopathy, Early Infantile, 4
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Spastic Paraplegia 39, Autosomal Recessive
Pyloric Stenosis, Infantile Hypertrophic, 3
Pyloric Stenosis, Infantile Hypertrophic, 4
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Hyperphenylalaninemia, BH4-Deficient, Due To Partial PTS Deficiency
Sensorineural Deafness With Mild Renal Dysfunction
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
Emery-Dreifuss Muscular Dystrophy 6, X-Linked
Primary Ovarian Insufficiency, Fragile X-Associated
46,Xx Gonadal Dysgenesis, Partial Or Complete, Autosomal
Emery-Dreifuss Muscular Dystrophy, Atypical, Autosomal Recessive
Charcot-Marie-Tooth Disease, Axonal, Type 2n
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Spastic Paraplegia 44, Autosomal Recessive
Neuropathy, Hereditary Sensory And Autonomic, Type IIB
Neutropenia, Severe Congenital, Autosomal Dominant 2
Heterotopia, Periventricular, Associated With Chromosome 5q Deletion
Epileptic Encephalopathy, Early Infantile, 1
Spastic Paraplegia 36, Autosomal Dominant
Spastic Paraplegia 37, Autosomal Dominant
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Recessive Cerebellar Ataxia Type 1
Hereditary Sensory and Autonomic Neuropathy Type Ie
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia
Sleep Initiation and Maintenance Disorders
Spinocerebellar Ataxia, Autosomal Recessive 9
Colorectal Cancer, Hereditary Nonpolyposis, Type 8
Rhizomelic chondrodysplasia punctata, type 1
Colorectal cancer, hereditary nonpolyposis, type 1
Hypercholesterolemia due to arg3500 mutation of Apo B-100
Cardiac form of generalized glycogenosis
Lynch syndrome I (site-specific colonic cancer)
Neurofibromatosis, Type 3, mixed central and peripheral
Microtia, meatal atresia and conductive deafness
Rhizomelic chondrodysplasia punctata, type 2
Rhizomelic chondrodysplasia punctata, type 3
Deafness, autosomal dominant nonsyndromic sensorineural 17
Muscular dystrophy, congenital, with central nervous system involvement
Deafness, autosomal dominant nonsyndromic sensorineural 22
Deafness, autosomal dominant nonsyndromic sensorineural 23
Deafness, autosomal dominant nonsyndromic sensorineural 24
Speech disturbance - use of faulty phrasing and unrelated words
Isolated Growth Hormone Deficiency, Type II
Pituitary Dwarfism with Large Sella Turcica
Pituitary Hormone Deficiency, Combined, 2
Deafness, Progressive, With Stapes Fixation
Deafness, Childhood-Onset Neurosensory, Autosomal Recessive 8
Colorectal Cancer, Hereditary Nonpolyposis, Type 5
Spinocerebellar Ataxia, Autosomal Recessive 7
Colorectal Cancer, Hereditary Nonpolyposis, Type 4
Colorectal Cancer, Hereditary Nonpolyposis, Type 3
Internal Carotid Artery, Spontaneous Dissection of
Tibia, Absence of, with Congenital Deafness
Polycystic Ovarian Disease due to 17-Ketosteroid Reductase Deficiency
Spinocerebellar Ataxia, Autosomal Recessive 8
Deafness, Conductive, with Malformed External Ear
Clavicular Hypoplasia, Zygomatic Arch Hypoplasia, and Micrognathia
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Beta Thalassemia, Dominant Inclusion Body Type
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Saethre-Chotzen Syndrome with Eyelid Anomalies
Spinocerebellar Ataxia And Plaque-Like Deposits
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
MPGN II with Complement Factor H Deficiency
Glomerulonephritis With Isolated C3 Deposits And Factor H Deficiency
Glomerulonephritis With Isolated C3 Deposits And Factor I Deficiency
Lymphoma, Primary Cutaneous Anaplastic Large Cell
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE
NEVER IN MITOSIS GENE A-RELATED KINASE 1
DEAFNESS, AUTOSOMAL DOMINANT 22;DFNA22 DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOP
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT
VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
Deafness, autosomal dominant nonsyndromic sensorineural 3
Deafness, autosomal dominant nonsyndromic sensorineural 53
Deafness, neurosensory, autosomal recessive 47
Irresistible sleepiness, cataplexy and onset of sleep in desynchronized phase
Auditory Neuropathy, Autosomal Dominant, 1
Colorectal Adenomatous Polyposis, Autosomal Recessive
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Krabbe Disease, Atypical, due to Saposin A Deficiency
Niemann-Pick Disease, Intermediate, With Visceral Involvement And Rapid Progression
Niemann-Pick Disease, Intermediate, Protracted Neurovisceral
Metachromatic Leukodystrophy due to Saposin B Deficiency
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemic Rickets, Autosomal Recessive, 1
Metachromatic Leukodystrophy, Adult-Onset, with Normal Arylsulfatase A
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Cerebral Sclerosis, Diffuse, Scholz Type
Gangliosidosis, Generalized GM1, Late-Infantile Type
Intestinal polyposis, osteomas, sebaceous cysts
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Hypophosphatemic Rickets, Autosomal Recessive, 2