Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare leukodystrophy characterized by infantile onset of lower limb spasticity and severe developmental delay associated with delayed myelination and periventricular white matter abnormalities. Other reported signs and symptoms include microcephaly, optic atrophy, nystagmus, ataxia, or seizures. Disease data Classification Disease Synonyms C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy Leukodystrofia hipomielinizująca z powodu niedoboru hikeshi Hypomyelinating leukodystrophy due to hikeshi deficiency ORPHA code 495844 OMIM code 616881 ICD10 code G93.8 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl