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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:0003676 | Progressive |
| HP:0001270 | Motor delay |
| HP:0007141 | Sensorimotor neuropathy |
| HP:0001337 | Tremor |
| HP:0000648 | Optic atrophy |
| HP:0003089 | Hamstring contractures |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002191 | Progressive spasticity |
| HP:0000529 | Progressive visual loss |
| HP:0006366 | Adductor longus contractures |
