OBO ID: DOID:0112327
Term Name: pontocerebellar hypoplasia type 12 Search Ontology:
Synonyms:
  • COASY-related pontocerebellar hypoplasia
  • PCH12
Definition: A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in COASY on chromosome 17q21.2. https://pubmed.ncbi.nlm.nih.gov/30089828/
References:
Ontology: Human Disease   (DOID:0112327)
OTHER pontocerebellar hypoplasia type 12 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COASY Pontocerebellar hypoplasia, type 12 618266
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None