Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Disease ID: disease_node_20268
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| Dbxref | MIM:616875, ORDO:480898 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Synonyms | CAVIPMR |
| Doid Label | cerebellar atrophy, visual impairment, and psychomotor retardation |
| Doid Description | 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. |
| Has Phenotype | HP_0012758 |
| Existence Starts During | HP_0011463 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20268 |
| Doid Id | DOID_0081276 |
| Label | Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)