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loading...| Preferred Name |
Episodic ataxia type 1 |
| ID |
http://www.orpha.net/ORDO/Orphanet_37612 |
| alternative_term |
Episodic ataxia with myokymia |
| definition |
A frequent form of Hereditary episodic ataxia characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37612 |
| has_inheritance |
Autosomal dominant |
| hasDbXref |
UMLS:C1719788 ICD-11:8A03.14 ICD-10:G11.8 OMIM:160120 |
| label |
Episodic ataxia type 1 |
| notation |
ORPHA:37612 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_98746 |
| prefixIRI |
ORDO:Orphanet_37612 |
| prefLabel |
Episodic ataxia type 1 |
| present_in |
Worldwide AND has_point_prevalence_range : Unknown |
| treeView |
http://www.orpha.net/ORDO/Orphanet_98746 |
| subClassOf |
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