Abnormal speech pattern, Absent septum pellucidum, Agenesis of corpus callosum, Anophthalmia, Aplasia/Hypoplasia involving the skeletal musculature, Aplasia/Hypoplasia of the cerebellum, Areflexia, Autistic behavior, Bifid uvula, Blindness, Cataract, Cerebellar cyst, Cerebellar dysplasia, Cerebellar hypoplasia, Cerebral atrophy, Cerebral visual impairment, Chorea, Chorioretinal dysplasia, Cleft palate, Cognitive impairment, Corneal opacity, Cortical dysplasia, Cryptorchidism, Dandy-Walker malformation, Delayed speech and language development, Depression, Dyskinesia, Dystonia, EEG abnormality, EEG with focal epileptiform discharges, EEG with generalized epileptiform discharges, Elevated circulating creatine kinase concentration, EMG abnormality, Epileptic spasm, Focal-onset seizure, Gait disturbance, Generalized hypotonia, Generalized-onset seizure, Glaucoma, Global developmental delay, Hemiplegia/hemiparesis, Holoprosencephaly, Hydrocephalus, Hyperactivity, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplasia of the pons, Hyporeflexia, Hypotonia, Hypsarrhythmia, Impulsivity, Intellectual disability, Intellectual disability, mild, Intellectual disability, moderate, Intellectual disability, severe, Iris coloboma, Large basal ganglia, Leukoencephalopathy, Lissencephaly, Low-set ears, Macrocephaly, Meningocele, Metatarsus valgus, Microcephaly, Microcornea, Microphthalmia, Motor delay, Motor stereotypy, Multifocal epileptiform discharges, Muscle weakness, Muscular dystrophy, Myopathy, Myopia, Nasogastric tube feeding, obsolete Macrogyria, Optic atrophy, Optic nerve hypoplasia, Pachygyria, Polymicrogyria, Poor speech, Posteriorly rotated ears, Protruding ear, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Seizure, Severe muscular hypotonia, Short attention span, Skeletal muscle atrophy, Sleep abnormality, Spasticity, Specific learning disability, Strabismus, Submucous cleft hard palate, Type II lissencephaly, Ventriculomegaly, Visual impairment