Autosomal recessive ataxia with oculomotor apraxia type 1 (Q96455): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed an Item |
Changed an Item |
||
| Property / Canary Token | |||
dki-india-ID_25270506 | |||
| Property / Canary Token: dki-india-ID_25270506 / rank | |||
Normal rank | |||
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 |
||
| 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
0 references
dki-india-ID_25270506
0 references
