Version: 8.0.0
Date: Tue Jan 28 2025
pontocerebellar hypoplasia type 15
DOID:0112326
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

pontocerebellar hypoplasia type 15

Definition
A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDC40 gene on chromosome 6q21.
Synonyms
  • PCH15
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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