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Human Disease

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
Ontology
Human Disease   ( DOID:0112327 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models