Search Ontology:
Human Disease

Behr syndrome

Term ID
DOID:0111580
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. https://www.ncbi.nlm.nih.gov/pubmed/6747661
References
Ontology
Human Disease   ( DOID:0111580 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models