Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A disorder that is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. Disease data Classification Malformation syndrome Synonyms Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome Ataksja móżdżkowa - niepełnosprawność intelektualna - zanik nerwu wzrokowego - nieprawidłowości skóry SCAR5 SCAR5 ORPHA code 83472 OMIM code 606937 ICD10 code G11.1 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