Cerebellar atrophy, Cerebral cortical atrophy, Cerebral hypomyelination, Chronic constipation, Congenital hip dislocation, Constipation, Developmental regression, Diffuse cerebral atrophy, Dysphagia, Dystonia, Elevated circulating creatine kinase concentration, Encephalopathy, Facial hypotonia, Fasciculations, Febrile seizure (within the age range of 3 months to 6 years), Feeding difficulties, Fractures of the long bones, Generalized tonic seizure, Gliosis, Global developmental delay, Growth delay, Hirsutism, Hypertelorism, Hypoplasia of the corpus callosum, Infantile muscular hypotonia, Intellectual disability, Intellectual disability, moderate, Intellectual disability, profound, Macrotia, Micrognathia, Motor axonal neuropathy, Motor stereotypy, Muscle weakness, Neurogenic bladder, Neuronal loss in central nervous system, Optic atrophy, Pectus carinatum, Pectus excavatum, Plagiocephaly, Polyhydramnios, Poor speech, Primary microcephaly, Progressive spasticity, Recurrent pneumonia, Respiratory failure requiring assisted ventilation, Respiratory insufficiency, Scoliosis, Secondary microcephaly, Seizure, Severe muscular hypotonia, Skeletal muscle atrophy, Sparse eyebrow, Spastic tetraplegia, Spasticity, Tetraplegia, Tongue fasciculations, Upslanted palpebral fissure, Urinary incontinence, Ventriculomegaly, Widely spaced teeth