Term Name:	cerebellar atrophy, visual impairment, and psychomotor retardation
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.
Ontology:	Human Disease [DOID:0081276]   ( DOID:0081276 )