Search Ontology:
Human Disease

cerebellar atrophy, visual impairment, and psychomotor retardation

Term ID
DOID:0081276
Synonyms
  • CAVIPMR
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. (4)
References
Ontology
Human Disease   ( DOID:0081276 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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