Behr Syndrome (BEHRS)

Alias:

Abortive Cerebellar Ataxia

Behrs

Optic Atrophy, Infantile Hereditary, with Neurologic Abnormalities

Optic Atrophy in Early Childhood, Associated with Ataxia, Spasticity, Mental Retardation, and Posterior Column Sensory Loss

Infantile Hereditary Optic Atrophy with Neurologic Abnormalities

Optic Atrophy, Infantile Hereditary, Behr Complicated Form of

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Behr Syndrome, also known as abortive cerebellar ataxia, is related to optic atrophy 1 and autosomal dominant optic atrophy, classic form, and has symptoms including ataxia, spasm and tremor. An important gene associated with Behr Syndrome is OPA1 (OPA1 Mitochondrial Dynamin Like GTPase), and among its related pathways/superpathways are Glucose / Energy Metabolism and Mitochondrial calcium ion transport. Related phenotypes are ataxia and optic atrophy

Related ID：

MALACARDS：BHR001

OMIM：210000

MESH：C537669