Behr syndrome (DOID:0111580)
Alliance: disease page
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
Alt IDs: OMIM:210000, MESH:C537669, NCI:C177251, UMLS_CUI:C0221061
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.