Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/617665
http://purl.bioontology.org/ontology/OMIM/617665
|
|---|---|
| Preferred Name | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56 |
| Synonyms |
DEE56
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56
EIEE56
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
DEE56
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56
EIEE56
|
|---|---|
| prefLabel | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56
|
| Gene Symbol |
YWHAG
DEE56
|
| Scope Statement | Onset in first year of life [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Caused by mutation in the tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma isoform gene (YWHAG, 605356.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 7q11.23
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 617665
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4540034
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |