Version: 8.0.0
Date: Tue Jan 28 2025
cerebellar atrophy, visual impairment, and psychomotor retardation
DOID:0081276
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

cerebellar atrophy, visual impairment, and psychomotor retardation

Definition
A syndrome that is characterized by cerebellar atrophy, visual impairment and psychomotor retardation and that has_material_basis_in homozygous mutation in the EMC1 gene on chromosome 1p36.
Synonyms
  • CAVIPMR
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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