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

• GARD:849
• MESH:C537669
• NCI:C177251
• OMIM:210000
• SNOMEDCT_US_2023_03_01:66988006
• UMLS_CUI:C0221061

Ontology

Human Disease   ( DOID:0111580 )