Visualize Submit Comment
Metadata
ID DOID:0081276
Name 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.
https://disorders.eyes.arizona.edu/disorders/cerebellar-atrophy-visual-impairment-and-psychomotor-retardation, https://pubmed.ncbi.nlm.nih.gov/26942288/, https://pubmed.ncbi.nlm.nih.gov/29271071/, https://pubmed.ncbi.nlm.nih.gov/35234901/
Xrefs

MIM:616875

ORDO:480898

Subsets

DO_rare_slim

Synonyms

CAVIPMR [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

Add an item to the term tracker