| Metadata | |
|---|---|
| ID | DOID:0111580 |
| Name | Behr syndrome |
| Definition | A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the OPA1 gene on chromosome 3q29. https://www.ncbi.nlm.nih.gov/pubmed/6747661 |
| Xrefs |
SNOMEDCT_US_2023_03_01:66988006 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Abortive cerebellar ataxia (BEHRS) [EXACT] BEHRS [EXACT] optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss [EXACT] optic atrophy, infantile hereditary, Behr complicated form of [EXACT] |
| Parent Relationships |