pontocerebellar hypoplasia type 2A (DOID:0060267)
Alliance: disease page
Alt IDs: OMIM:277470, MESH:C564738, ORDO:2524, UMLS_CUI:C1848526
Definition: A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.