Lethal ataxia with deafness and optic atrophy (Q61896): Difference between revisions

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Latest revision as of 09:23, 14 August 2026

Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is a disorder of purine metabolism characterised by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy, susceptibility to infections, and later, flaccid tetraplegia and areflexia.

Language	Label	Description	Also known as
default for all languages	ID_1859847483
English	Lethal ataxia with deafness and optic atrophy	Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is a disorder of purine metabolism characterised by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy, susceptibility to infections, and later, flaccid tetraplegia and areflexia.