| Metadata | |
|---|---|
| ID | DOID:0112326 |
| Name | pontocerebellar hypoplasia type 15 |
| Definition | A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDC40 gene on chromosome 6q21. https://pubmed.ncbi.nlm.nih.gov/33220177/ |
| Xrefs | |
| Synonyms |
PCH15 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |