Ambiguous genitalia, male, Anomalous pulmonary venous return, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the skin, Arthrogryposis multiplex congenita, Bifid uvula, Bilateral talipes equinovarus, Cleft palate, Cupped ear, Depressed nasal bridge, Dermal atrophy, Downslanted palpebral fissures, Epicanthus, Failure to thrive, Feeding difficulties, Frontal bossing, Generalized osteosclerosis, Gingival fibromatosis, Global developmental delay, Growth delay, Hydrocephalus, Hypoplastic nasal bridge, Increased bone mineral density, Intellectual disability, Intestinal malrotation, Intrauterine growth retardation, Joint contracture of the hand, Large earlobe, Lissencephaly, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Metatarsus adductus, Microcephaly, Micrognathia, Micromelia, Muscle stiffness, Narrow mouth, Nystagmus, Osteopetrosis, Pachygyria, Partial agenesis of the corpus callosum, Patent ductus arteriosus, Polymicrogyria, Posteriorly rotated ears, Prominent forehead, Relative macrocephaly, Renal agenesis, Renal hypoplasia/aplasia, Retrognathia, Rhizomelia, Rigidity, Seizure, Severe short stature, Short nose, Spasticity, Splenomegaly, Status epilepticus, Strabismus, Submucous cleft hard palate, Talipes equinovarus, Total anomalous pulmonary venous return, Ventriculomegaly, obsolete Macrogyria