OBO ID: DOID:0112326
Term Name: pontocerebellar hypoplasia type 15 Search Ontology:
Synonyms:
  • PCH15
Definition: A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in CDC40 on chromosome 6q21. https://pubmed.ncbi.nlm.nih.gov/33220177/
References:
Ontology: Human Disease   (DOID:0112326)
OTHER pontocerebellar hypoplasia type 15 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CDC40 ?Pontocerebellar hypoplasia, type 15 619302
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None