| Term Name: | pontocerebellar hypoplasia type 5 |
|---|---|
| Synonyms: | |
| Definition: | A pontocerebellar hypoplasia that is characterized by severe olivopontocerebellar hypoplasia and degeneration leading to early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. |
| Ontology: | Human Disease [DOID:0060274] ( DOID:0060274 ) |