Lethal ataxia with deafness and optic atrophy (Q61896)
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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. |
Statements
CID11:ID_1859847483
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dki-india-ID_1859847483
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Concluído
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13 August 2026
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