Abnormality of the mouth, Abnormality of the philtrum, Abnormality of the skin, Absent septum pellucidum, Ambiguous genitalia, Ankle flexion contracture, Aplasia/Hypoplasia involving the skeletal musculature, Arthrogryposis multiplex congenita, Bifid uvula, Bilateral talipes equinovarus, Broad foot, Cataract, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebral calcification, Cerebral white matter hypoplasia, Cleft palate, Craniosynostosis, Cyanotic episode, Dandy-Walker malformation, Decreased fetal movement, Delayed myelination, Depressed nasal bridge, Depressed nasal ridge, Dilation of lateral ventricles, EEG with focal sharp waves, EEG with polyspike wave complexes, Epileptic spasm, Everted lower lip vermilion, External genital hypoplasia, Failure to thrive in infancy, Feeding difficulties in infancy, Flexion contracture, Gastrostomy tube feeding in infancy, Global developmental delay, High palate, Hyperglycinemia, Hyperreflexia, Hypertelorism, Hypoglycinemia, Hypogonadism, Hypoplasia of the corpus callosum, Hyposerinemia, Ichthyosis, Inappropriate crying, Infantile axial hypotonia, Intrauterine growth retardation, Knee flexion contracture, Lack of skin elasticity, Large hands, Limb joint contracture, Lissencephaly, Low-set ears, Macrotia, Microcephaly, Micrognathia, Micromelia, Muscle spasm, Muscular dystrophy, Myoclonus, Nasogastric tube feeding, Opisthotonus, Osteomalacia, Osteopenia, Osteoporosis, Pachygyria, Paroxysmal involuntary eye movements, Polyhydramnios, Polymicrogyria, Primary microcephaly, Profound global developmental delay, Prominent occiput, Proptosis, Psychomotor retardation, Pterygium, Pulmonary hypoplasia, Retrognathia, Rickets, Rocker bottom foot, Scoliosis, Secondary microcephaly, Seizure, Short neck, Simplified gyral pattern, Skeletal muscle atrophy, Sloping forehead, Spastic tetraparesis, Spasticity, Spina bifida, Submucous cleft hard palate, Thick vermilion border, Thickened nuchal skin fold, Trismus, Ventriculomegaly, obsolete Macrogyria