| 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://pubmed.ncbi.nlm.nih.gov/29271071/, https://disorders.eyes.arizona.edu/disorders/cerebellar-atrophy-visual-impairment-and-psychomotor-retardation, https://pubmed.ncbi.nlm.nih.gov/35234901/, https://pubmed.ncbi.nlm.nih.gov/26942288/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CAVIPMR [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has phenotype some Neurodevelopmental delay existence starts during some Childhood onset has material basis in some autosomal recessive inheritance |