Axial hypotonia, Bilateral ptosis, Bilateral sensorineural hearing impairment, Camptodactyly of finger, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Compensatory chin elevation, Congenital fibrosis of extraocular muscles, Cortical dysplasia, Cubitus valgus, Delayed ability to sit, Delayed early-childhood social milestone development, Delayed fine motor development, Delayed gross motor development, 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, 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, Inability to walk, Insomnia, Intellectual disability, Intellectual disability, moderate, Joint contracture of the hand, Kyphoscoliosis, Large basal ganglia, Lateral ventricle dilatation, Levator palpebrae superioris atrophy, Lissencephaly, Low-set ears, Macrocephaly, Metatarsus adductus, Microcephaly, Micrognathia, Motor stereotypy, Nonprogressive restrictive external ophthalmoplegia, Normal pressure hydrocephalus, Nystagmus, obsolete Focal seizures, afebril, obsolete Impaired social interactions, obsolete Infantile axial hypotonia, obsolete Joint laxity, obsolete Mood changes, Oculomotor apraxia, Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Peripheral axonal neuropathy, Plagiocephaly, Polymicrogyria, Poor speech, Primary microcephaly, 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, Spasticity, Spastic tetraplegia, Specific learning disability, Strabismus, Superior rectus atrophy, Thoracic scoliosis, Torticollis, Type II lissencephaly, Visual loss, Wrist flexion contracture