| Term Name: | pontocerebellar hypoplasia type 3 |
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| 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 ) |