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Behr syndrome

MONDO:0008858

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.

Also known as: Behr syndrome, 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, optic atrophy, infantile hereditary, with neurologic abnormalities

49 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Metabolic disease (215) Hereditary disease (172) Eye disorder (97) Inborn mitochondrial metabolism disorder (57) Inborn errors of metabolism (42) Mitochondrial disease (39) Human disease (14) Developmental defect during embryogenesis (7)
Trials to join now! 26 Not yet recruiting 4 Not yet finished but already full! 8 Completed 9 Terminated 2
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