Autosomal recessive ataxia with oculomotor apraxia type 1 (Q96455): Difference between revisions
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Latest revision as of 12:27, 16 August 2026
Autosomal recessive disorder characterized by development of progressive ataxia, oculomotor apraxia (difficulty moving eyes side to side), chorea and primary motor peripheral axonal neuropathy. Associated with a mutation in the APTX gene coding for aprataxin and is most common in Portugal and Japan.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_25270506 |
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| English | Autosomal recessive ataxia with oculomotor apraxia type 1 |
Autosomal recessive disorder characterized by development of progressive ataxia, oculomotor apraxia (difficulty moving eyes side to side), chorea and primary motor peripheral axonal neuropathy. Associated with a mutation in the APTX gene coding for aprataxin and is most common in Portugal and Japan. |
Statements
CID11:ID_25270506
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dki-india-ID_25270506
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Concluído
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15 August 2026
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