Term Name: | pontocerebellar hypoplasia type 5 |
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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 ) |