Lethal ataxia with deafness and optic atrophy (Q61896): Difference between revisions
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A ataxia letal com surdez e atrofia óptica (também conhecida como síndrome de Arts) é um distúrbio do metabolismo das purinas caracterizado por deficiência intelectual, hipotonia de início precoce, ataxia, atraso no desenvolvimento motor, deficiência auditiva e perda de visão devido à atrofia óptica, suscetibilidade a infecções e, posteriormente, tetraplegia flácida e arreflexia. | |||
| description / en | description / en | ||
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. | |||
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 |
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| 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. |
