Developmental stagnation, Drowsiness, EEG abnormality, Edema, Edema of the dorsum of feet, Edema of the dorsum of hands, Epicanthus, Feeding difficulties, Feeding difficulties in infancy, Flexion contracture, Full cheeks, Generalized hypotonia, Gingival overgrowth, Global developmental delay, Hydrocephalus, Hyperreflexia, Hypoplasia of the corpus callosum, Hypsarrhythmia, Infantile encephalopathy, Infantile spasms, Intellectual disability, profound, Intellectual disability, severe, Limitation of joint mobility, Macrotia, Malar flattening, Microcephaly, Midface retrusion, Myoclonus, Narrow forehead, Neuronal loss in central nervous system, Open mouth, Optic atrophy, Pachygyria, Palpebral edema, Pedal edema, Peripheral dysmyelination, Peripheral edema, Polymicrogyria, Porencephalic cyst, Progressive microcephaly, Recurrent respiratory infections, Retrognathia, Seizure, Severe muscular hypotonia, Short nose, Tapered finger, Tented upper lip vermilion, Undetectable visual evoked potentials, Ventriculomegaly, Visual loss, obsolete External ear malformation