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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
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60313 | Dynamin-like GTPase OPA1, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001771 | Achilles tendon contracture |
| HP:0011463 | Childhood onset |
| HP:0001251 | Ataxia |
| HP:0003487 | Babinski sign |
| HP:0000618 | Blindness |
| HP:0002317 | Unsteady gait |
| HP:0006855 | Cerebellar vermis atrophy |
| HP:0001288 | Gait disturbance |
| HP:0000505 | Visual impairment |
| HP:0002078 | Truncal ataxia |
