Absent sternal ossification, Absent thumb, Agenesis of corpus callosum, Anteverted nares, 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, Arrhinencephaly, Atrial septal defect, Bilateral external ear deformity, Bilateral microphthalmos, Broad secondary alveolar ridge, Cardiomegaly, Cardiomyopathy, Cataract, Cerebellar hypoplasia, Clitoral hypertrophy, Craniofacial dystonia, Cryptorchidism, Decreased skull ossification, Delayed speech and language development, Developmental regression, Dolichocephaly, Drooling, Dysphagia, Dystonia, Excessive salivation, Failure to thrive, Flared metaphysis, Generalized hypotonia, Generalized neonatal hypotonia, Gingival recession, Global developmental delay, Glossoptosis, Hearing impairment, High forehead, High, narrow palate, Hip dislocation, Hydrocephalus, Hydrops fetalis, Hyperreflexia, Hypertelorism, Hypertension, Hypoplasia of the frontal lobes, Hypoplastic facial bones, Hypoplastic labia majora, Hypospadias, Hypotonia, Increased nuchal translucency, Intrauterine growth retardation, Large fontanelles, Loss of ability to walk, Low-set ears, Metatarsus adductus, Microcephaly, Micrognathia, Micropenis, Microphthalmia, Narrow nasal base, Neuronal loss in central nervous system, Pachygyria, Polyhydramnios, Premature birth, Premature loss of primary teeth, Primary microcephaly, Proptosis, Pulmonary arterial hypertension, Pyloric stenosis, Redundant neck skin, Renal artery stenosis, Renovascular hypertension, Rocker bottom foot, Sclerocornea, 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, Slender long bones with narrow diaphyses, Small earlobe, Sparse eyebrow, Sparse eyelashes, Sparse scalp hair, Spasticity, Syndactyly, Tapered finger, Tapered toe, Tetralogy of Fallot, Thin vermilion border, Toe syndactyly, Unsteady gait, Upslanted palpebral fissure, Ventricular septal defect, Wide cranial sutures, obsolete Sparse and thin eyebrow

enlarged lateral ventricles, increased forebrain apoptosis, increased hindbrain apoptosis, increased midbrain apoptosis, postnatal lethality, complete penetrance, spongiform encephalopathy