Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is a rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellectual disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia. Disease data Classification Malformation syndrome Synonyms Autosomal recessive spinocerebellar ataxia type 20 Autosomalna recesywna ataksja rdzeniowo-móżdżkowa typu 20 SCAR20 Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome SCAR20 ORPHA code 397709 OMIM code 616354 ICD10 code Q87.8 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