DO_rare_slim autosomal dominant intellectual developmental disorder cerebellar ataxia type 47 disease_ontology MIM:620719 An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has_material_basis_in heterozygous mutation in the PUM1 gene on chromosome 1p35.2. ORDO:589515 DOID:0111743 PUM1-associated developmental disability-ataxia-seizure syndrome SCA47 autosomal dominant cerebellar ataxia