Term Name: | pontocerebellar hypoplasia type 12 |
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Synonyms: | COASY-related pontocerebellar hypoplasia, PCH12 |
Definition: | A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the COASY gene on chromosome 17q21.2. |
Ontology: | Human Disease [DOID:0112327] ( DOID:0112327 ) |