Term Name: | pontocerebellar hypoplasia type 15 |
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Synonyms: | PCH15 |
Definition: | A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDC40 gene on chromosome 6q21. |
Ontology: | Human Disease [DOID:0112326] ( DOID:0112326 ) |