| Metadata | |
|---|---|
| ID | DOID:0112327 |
| Name | pontocerebellar hypoplasia type 12 |
| Definition | A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the COASY gene on chromosome 17q21.2. https://pubmed.ncbi.nlm.nih.gov/30089828/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
COASY-related pontocerebellar hypoplasia [EXACT] PCH12 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |