Bilateral ptosis, Bilateral sensorineural hearing impairment, Camptodactyly of finger, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Compensatory chin elevation, Congenital fibrosis of extraocular muscles, Congenital microcephaly, Cortical dysplasia, Cubitus valgus, Delayed ability to sit, Delayed fine motor development, Delayed gross motor development, Delayed social development, Dilation of lateral ventricles, Downslanted palpebral fissures, Dysarthria, Dysgenesis of the hippocampus, Dystonia, Epicanthus, Esotropia, Exotropia, Expressive language delay, Facial palsy, Failure to thrive, Feeding difficulties in infancy, Flat occiput, Focal seizures, afebril, Genu valgum, Global developmental delay, Grasp reflex, High palate, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Hypoplasia of the olfactory bulb, Impaired mastication, Impaired social interactions, Inability to walk, Infantile axial hypotonia, Insomnia, Intellectual disability, Intellectual disability, moderate, Joint contracture of the hand, Joint laxity, Kyphoscoliosis, Large basal ganglia, Levator palpebrae superioris atrophy, Lissencephaly, Low-set ears, Macrocephaly, Metatarsus adductus, Microcephaly, Micrognathia, Mood changes, Muscular hypotonia of the trunk, Nonprogressive restrictive external ophthalmoplegia, Normal pressure hydrocephalus, Nystagmus, Oculomotor apraxia, Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Peripheral axonal neuropathy, Plagiocephaly, Polymicrogyria, Poor speech, Ptosis, Seizure, Sensorineural hearing impairment, Severe global developmental delay, Short attention span, Short foot, Simplified gyral pattern, Small basal ganglia, Small hand, Spastic ataxia, Spastic diplegia, Spastic tetraplegia, Spasticity, Specific learning disability, Stereotypy, Strabismus, Superior rectus atrophy, Thoracic scoliosis, Torticollis, Type II lissencephaly, Visual loss, Wrist flexion contracture