OBO ID: DOID:0111580
Term Name: Behr syndrome Search Ontology:
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 OPA1 on chromosome 3q29. https://www.ncbi.nlm.nih.gov/pubmed/6747661
References:
Ontology: Human Disease   (DOID:0111580)
OTHER Behr syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
OPA1 Behr syndrome 210000
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None