Abnormal autonomic nervous system morphology
Abnormalities of the peripheral arteries
Abnormality of  blood and blood-forming tissues
Abnormality of alkaline phosphatase activity
Abnormality of blood glucose concentration
Abnormality of carboxylic acid metabolism
Abnormality of cardiovascular system physiology
Abnormality of circulating hormone level
Abnormality of circulating protein level
Abnormality of dicarboxylic acid metabolism
Abnormality of divalent inorganic cation homeostasis
Abnormality of fatty-acid anion metabolism
Abnormality of female external genitalia
Abnormality of female internal genitalia
Abnormality of nervous system morphology
Abnormality of nervous system physiology
Abnormality of nitrogen compound homeostasis
Abnormality of pelvic girdle bone morphology
Abnormality of prenatal development or birth
Abnormality of skeletal muscle fiber size
Abnormality of the anterior segment of the eye
Abnormality of the atrioventricular valves
Abnormality of the autonomic nervous system
Abnormality of the cardiovascular system
Abnormality of the cerebral white matter
Abnormality of the curvature of the vertebral column
Abnormality of the distal phalanx of finger
Abnormality of the femoral neck and head region
Abnormality of the fontanelles and cranial sutures
Abnormality of the gastrointestinal tract
Abnormality of the heme biosynthetic pathway
Abnormality of the hypothalamus-pituitary axis
Abnormality of the joints of the lower limbs
Abnormality of the joints of the upper limbs
Abnormality of the middle phalanges of the hand
Abnormality of the musculature of the neck
Abnormality of the neuromuscular junction
Abnormality of the peripheral nervous system
Abnormality of the phalanges of the toes
Abnormality of the posterior cranial fossa
Abnormality of the posterior segment of the eye
Abnormality of the retinal pigment epithelium
Abnormality of the seventh cranial nerve
Abnormality of the systemic arterial tree
Abnormality of the tracheobronchial system
Abnormality of the upper respiratory tract
Abnormality of the urinary system physiology
Anemia due to reduced life span of red cells
Aplasia/hypoplasia affecting bones of the axial skeleton
Aplasia/Hypoplasia involving bones of the feet
Aplasia/hypoplasia involving bones of the hand
Aplasia/hypoplasia involving bones of the lower limbs
Aplasia/Hypoplasia involving bones of the skull
Aplasia/hypoplasia involving bones of the upper limbs
Aplasia/Hypoplasia involving the central nervous system
Aplasia/Hypoplasia of the  cerebellar vermis
Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the distal phalanges of the hand
Aplasia/Hypoplasia of the phalanges of the hand
Atrophy/Degeneration affecting the central nervous system
Contractures of the joints of the lower limbs
Decreased number of peripheral myelinated nerve fibers
Dermatological manifestations of systemic disorders
Deviation of the hand or of fingers of the hand
Displacement of the external urethral meatus
Duplication of bones involving the upper extremities
Increased variability in muscle fiber diameter
Intermittent episodes of respiratory insufficiency due to muscle weakness
Malformation of the heart and great vessels
Morphological abnormality of the central nervous system
Morphological abnormality of the gastrointestinal tract
Paralysis due to lesions of the principle motor tracts
Radial deviation of the hand or of fingers of the hand
Recurrent lower respiratory tract infections
Recurrent upper respiratory tract infections
Respiratory insufficiency due to muscle weakness
Synostosis involving bones of the upper limbs