pontocerebellar hypoplasia type 12

Term ID

DOID:0112327

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. https://pubmed.ncbi.nlm.nih.gov/30089828/

References

• OMIM:618266
• ORDO:611256

Ontology

Human Disease   ( DOID:0112327 )