Version: 8.0.0
Date: Tue Jan 28 2025
pontocerebellar hypoplasia type 12
DOID:0112327
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

pontocerebellar hypoplasia type 12

Definition
A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the COASY gene on chromosome 17q21.2.
Synonyms
  • COASY-related pontocerebellar hypoplasia
  • PCH12
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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