Search Ontology:
Human Disease

pontocerebellar hypoplasia type 15

Term ID
DOID:0112326
Synonyms
  • PCH15
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/
References
Ontology
Human Disease   ( DOID:0112326 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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