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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619595
http://purl.bioontology.org/ontology/OMIM/619595
|
|---|---|
| Preferred Name | DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES |
| Synonyms |
DEHMBA
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | DEHMBA
|
|---|---|
| prefLabel | DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES
|
| Gene Symbol |
FLHS
SWR1
SRCAP
KIAA0309
DEHMBA
|
| Scope Statement | Caused by mutation in the SNF2-related CBP activator protein gene (SRCAP, 611421.0008) [MOLECULAR BASIS]
Variable and nonspecific phenotype [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 16p11.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 619595
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5562012
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |