Term Name: | pontocerebellar hypoplasia type 6 |
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Synonyms: | |
Definition: | A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 gene. |
Ontology: | Human Disease [DOID:0060275] ( DOID:0060275 ) |