FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Behr syndrome ID (Ontology) DOID:0111580 (Human Disease)
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.
Also Known As "Abortive cerebellar ataxia (BEHRS)" ; "BEHRS" ; "optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss" (for all, see Synonyms field below)
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 Genes
 Behr syndrome       1
 for disease ribbon | Behr syndrome       1
 model of | Behr syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease of anatomical entity     |
 |__nervous system disease_______|
                                 Behr syndrome  1 rec.
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Is a autosomal recessive disease
nervous system disease
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Synonyms
  • "Abortive cerebellar ataxia (BEHRS)" EXACT
    "BEHRS" EXACT OMO:0003012
    "optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss" EXACT
    "optic atrophy, infantile hereditary, Behr complicated form of" EXACT
Secondary IDs
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GARD:849
MESH:C537669
MIM:210000
NCI:C177251
SNOMEDCT_US_2023_03_01:66988006
UMLS_CUI:C0221061