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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/605130
http://purl.bioontology.org/ontology/OMIM/605130
|
|---|---|
| Preferred Name | WIEDEMANN-STEINER SYNDROME |
| Synonyms |
HAIRY ELBOWS, SHORT STATURE, FACIAL DYSMORPHISM, AND DEVELOPMENTAL DELAY
WDSTS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
HAIRY ELBOWS, SHORT STATURE, FACIAL DYSMORPHISM, AND DEVELOPMENTAL DELAY
WDSTS
|
|---|---|
| prefLabel | WIEDEMANN-STEINER SYNDROME
|
| Gene Symbol |
KMT2A
HRX
WDSTS
MLL
|
| Scope Statement | Caused by mutation in the lysine-specific methyltransferase 2E gene (KMT2A, 159555.0001) [MOLECULAR BASIS]
Facial appearance becomes more apparent with age [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Hairy elbows become apparent in infancy and regress during adolescence [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 11q23
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 605130
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1854630
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |