Behr syndrome

Summary

DOID:0111580 - Behr syndrome

Disease Ontology 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.

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,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: opa1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), nervous system disease (is_a)