Term Name: | pontocerebellar hypoplasia type 3 |
---|---|
Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0060272] ( DOID:0060272 ) |