Behr syndrome
Findings
No curated finding names Behr syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A 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.
Definition from the Mondo Disease Ontology (MONDO:0008858), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Progressive · Childhood onset
HPO, annotations 2026-09-02
Features
19 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AtaxiaHPOHP:0001251
- 6 of 6 reported patients
- Optic atrophyHPOHP:0000648
- 6 of 6 reported patients
- Peripheral neuropathyHPOHP:0009830
- 4 of 4 reported patients
- Cerebellar vermis atrophyHPOHP:0006855
- 2 of 4 reported patients
- Chronic constipationHPOHP:0012450
- 3 of 6 reported patients
- DysmetriaHPOHP:0001310
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- OPA1HGNC:8140
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2018