Lethal ataxia with deafness and optic atrophy


Engelsk navn: Lethal ataxia with deafness and optic atrophy
Engelske synonym: Arts syndrome,Lethal ataxia with hearing loss and optic atrophy


Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.

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Informasjon

Frambu kompetansesenter for sjeldne diagnoser har kunnskap om diagnosen.

ORPHA: 1187
Klassifiseringsnivå: Disorder
ICD-10: E79.8



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