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disease > genetic disease > hereditary disease > Behr syndrome
disease > nervous system diseases > Behr syndrome
disease > eye disease > optic nerve atrophy > Behr syndrome
... > disease > nervous system diseases > central nervous system diseases > cranial nerve disease > optic nerve atrophy > Behr syndrome

Terme préférentiel

Behr syndrome  

Définition(s)

  • Behr syndrome is characterized by the association of early-onset optic atrophy with spinocerebellar degeneration resulting in ataxia, pyramidal signs, peripheral neuropathy and developmental delay.Although it is an autosomal recessive disorder, heterozygotes may still manifest much attenuated symptoms. (Wikipedia)

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http://data.loterre.fr/ark:/67375/VH8-ZWPG9CNS-H

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RDF/XML TURTLE JSON-LD Dernière modif. 14/05/2020