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

• OMIM:619302

Ontology

Human Disease   ( DOID:0112326 )