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Behr syndrome
Summary
- Synonym
-
- Abortive cerebellar ataxia (BEHRS)
- BEHRS
- optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss
- optic atrophy, infantile hereditary, Behr complicated form of
- 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.
- Super Class
- autosomal recessive disease nervous system disease
External Links
- Disease Ontology
- DOID:0111580
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001272 | Cerebellar atrophy |
| HP:0009830 | Peripheral neuropathy |
| HP:0001347 | Hyperreflexia |
| HP:0001249 | Intellectual disability |
| HP:0003390 | Sensory axonal neuropathy |
| HP:0012450 | Chronic constipation |
| HP:0002015 | Dysphagia |
| HP:0001260 | Dysarthria |
| HP:0003593 | Infantile onset |
| HP:0000639 | Nystagmus |
