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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619687
http://purl.bioontology.org/ontology/OMIM/619687
|
|---|---|
| Preferred Name | DYSTONIA 33 |
| Synonyms |
DYT33
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | DYT33
|
|---|---|
| prefLabel | DYSTONIA 33
|
| Gene Symbol |
EIF2AK2
PRKR
DYT33
LEUDEN
|
| Scope Statement | Episodic regression during viral infection or stress [MISCELLANEOUS]
Slowly progressive [MISCELLANEOUS]
Caused by mutation in the eukaryotic translation initiation factor 2-alpha kinase 2 gene (EIF2AK2, 176871.0006) [MOLECULAR BASIS]
One patient with recessive inheritance has been reported (last curated December 2021) [MISCELLANEOUS]
Incomplete penetrance [MISCELLANEOUS]
Variable expressivity [MISCELLANEOUS]
Onset in the first 2 decades (range early childhood to adolescence) [MISCELLANEOUS]
Favorable response to deep brain stimulation (DBS) [MISCELLANEOUS]
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|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 2p21
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 619687
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5562054
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |