Absent nipple, Absent sternal ossification, Absent thumb, Agenesis of corpus callosum, Aggressive behavior, Agitation, Amyotrophic lateral sclerosis, Ankle flexion contracture, Anteverted nares, Anxiety, Aplasia of the 1st metacarpal, Aplasia of the distal phalanges of the hand, Aplasia of the distal phalanx of the hallux, Aplasia/Hypoplasia of the clavicles, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middle phalanges of the hand, Aplasia/Hypoplasia of the nails, Aplasia/Hypoplasia of the nipples, Aplasia/Hypoplasia of the scapulae, Aplasia/hypoplasia of the 1st metatarsal, Aplastic clavicle, Areflexia, Arrhinencephaly, Atrial septal defect, Axonal loss, Bilateral external ear deformity, Bilateral microphthalmos, Broad secondary alveolar ridge, Bulbar signs, Cardiomegaly, Cardiomyopathy, Cataract, Cerebellar hypoplasia, Clitoral hypertrophy, Cryptorchidism, Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Decreased skull ossification, Degeneration of anterior horn cells, Delirium, Depression, Distal arthrogryposis, Distal muscle weakness, Distal sensory impairment, Dolichocephaly, Dyspnea, Emotional lability, Failure to thrive, Fatigable weakness of bulbar muscles, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Flared metaphysis, Focal impaired awareness seizure, Frequent falls, Gait disturbance, Generalized hypotonia, Generalized muscle weakness, Generalized neonatal hypotonia, Gingival recession, Global developmental delay, Glossoptosis, Hearing impairment, High forehead, High, narrow palate, Hip dislocation, Hydrocephalus, Hydrops fetalis, Hypertelorism, Hypertension, Hypoplasia of the frontal lobes, Hypoplastic facial bones, Hypoplastic labia majora, Hyporeflexia, Hypospadias, Hypotonia, Increased nuchal translucency, Intrauterine growth retardation, Large fontanelles, Laryngospasm, Low-set ears, Metatarsus adductus, Microcephaly, Micrognathia, Micropenis, Microphthalmia, Motor delay, Muscle spasm, Narrow nasal base, Nausea and vomiting, Neurodegeneration, Neuronal loss in central nervous system, Onion bulb formation, Pachygyria, Pain, Paralysis, Peripheral hypomyelination, Polyhydramnios, Polymicrogyria, Premature birth, Premature loss of primary teeth, Primary microcephaly, Proptosis, Pulmonary arterial hypertension, Pyloric stenosis, Redundant neck skin, Renal artery stenosis, Renovascular hypertension, Respiratory insufficiency, Rocker bottom foot, Sclerocornea, Seizure, Severe failure to thrive, Severe global developmental delay, Short chin, Short clavicles, Short finger, Short middle phalanx of finger, Short philtrum, Short proximal phalanx of hallux, Short ribs, Short stature, Short toe, Short upper lip, Shortening of all distal phalanges of the toes, Single transverse palmar crease, Skeletal muscle atrophy, Slender long bones with narrow diaphyses, Small earlobe, Sparse eyebrow, Sparse eyelashes, Sparse scalp hair, Spasticity, Status epilepticus, Syndactyly, Tapered finger, Tapered toe, Tetralogy of Fallot, Thin vermilion border, Toe syndactyly, Upper motor neuron dysfunction, Upslanted palpebral fissure, Ventricular septal defect, Ventriculomegaly, Visual hallucinations, Wide cranial sutures, Xerostomia, obsolete Sparse and thin eyebrow

abnormal sciatic nerve morphology, decreased body size, decreased bone trabecula number, decreased bone volume, decreased hair follicle number, decreased trabecular bone connectivity density, decreased trabecular bone volume, diluted coat color, domed cranium, enlarged lateral ventricles, integument phenotype, limb grasping, limbs/digits/tail phenotype, long incisors, nervous system phenotype, neuron degeneration, premature death, small clavicle, spongiform encephalopathy