Term Name: | Behr syndrome |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0111580] ( DOID:0111580 ) |