Human genes for pontocerebellar hypoplasia type 3
Pontocerebellar hypoplasia type 3 [DOID:0060272]
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.
Synonyms: pontocerebellar hypoplasia type 3, DOID:0060272