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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616341
http://purl.bioontology.org/ontology/OMIM/616341
|
|---|---|
| Preferred Name | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 30 |
| Synonyms |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30
EIEE30
DEE30
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30
EIEE30
DEE30
|
|---|---|
| prefLabel | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 30
|
| Gene Symbol |
SIK1
MSK
SNF1LK
DEE30
|
| Scope Statement | Onset at birth or in the first months of life [MISCELLANEOUS]
Early death may occur [MISCELLANEOUS]
Caused by mutation in the salt-inducible kinase 1 gene (SIK1, 605705.0001) [MOLECULAR BASIS]
Mutations occur de novo [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 21q22.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 616341
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4225360
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |