Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive. Disease data Klasyfikacja Disease Synonimy H-SMD Hypomyelination-spondyloepimetaphyseal dysplasia syndrome Leukoencephalopathy-SEMD syndrome Leukoencephalopathy-metaphyseal chondrodysplasia syndrome H-SMD Hypomyelination-spondyloepimetaphyseal dysplasia syndrome Leukoencephalopathy-SEMD syndrome Leukoencephalopathy-metaphyseal chondrodysplasia syndrome Kod ORPHA 83629 Kod OMIM 300232 Kod ICD10 G11.4 Kod ICD11 - *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