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Behr syndrome
rareA disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient.
- Identifiers
- MONDO:0008858 OMIM:210000Orphanet:1239
- Causal genes
- OPA1
- Part of
- OPA1-related optic atrophy with or without extraocular featuresAutosomal recessive diseaseHereditary neurological disease
- Also known as
- BEHRS · optic atrophy in early childhood, associated with ataxia, spasticity, intellectual disability, and posterior column sensory loss · optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss · optic atrophy, infantile hereditary, Behr complicated form of
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