Human genes for Behr syndrome
Behr syndrome [DOID:0111580]
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 OPA1 on chromosome 3q29.
Synonyms: Behr syndrome, Behr disease, Behr disorder, Behr syndromes, DOID:0111580 ...