pontocerebellar hypoplasia type 3 (DOID:0060272)
Alliance: disease page
Alt IDs: OMIM:608027, MESH:C548072, ORDO:97249, UMLS_CUI:C1842687
Definition: A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the PCLO gene.