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GTR Home > Conditions/Phenotypes > Abortive cerebellar ataxia

Abortive cerebellar ataxia

Synonyms
Behr syndrome; OPTIC ATROPHY, INFANTILE HEREDITARY, WITH NEUROLOGIC ABNORMALITIES; Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss; Optic atrophy, infantile hereditary, Behr complicated form of

Summary

'Behr syndrome' is a clinical term that refers to the constellation of early-onset optic atrophy accompanied by neurologic features, including ataxia, pyramidal signs, spasticity, and mental retardation (Behr, 1909; Thomas et al., 1984). Patients with mutations in genes other than OPA1 can present with clinical features reminiscent of Behr syndrome. Mutations in one of these genes, OPA3 (606580), result in type III 3-methylglutaconic aciduria (MGCA3; 258501). Lerman-Sagie (1995) noted that the abnormal urinary pattern in MGCA3 may not be picked up by routine organic acid analysis, suggesting that early reports of Behr syndrome with normal metabolic features may actually have been 3-methylglutaconic aciduria type III. [from OMIM]

Available tests

49 tests are in the database for this condition.

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Clinical tests (49 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BERHS, MGM1, MTDPS14, NPG, NTG, largeG, OPA1
    Summary: OPA1 mitochondrial dynamin like GTPase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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