Term Name: Behr syndrome
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 )

Relationships
is a type of: autosomal recessive disease nervous system disease