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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618454
http://purl.bioontology.org/ontology/OMIM/618454
|
|---|---|
| Preferred Name | DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM |
| Synonyms |
DEDDFA
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | DEDDFA
|
|---|---|
| prefLabel | DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM
|
| Gene Symbol |
DFNA75
DEDDFA
TRRAP
|
| Scope Statement | De novo mutation [MISCELLANEOUS]
Highly variable phenotype [MISCELLANEOUS]
Caused by mutation in the transformation/transcription domain-associated protein gene (TRRAP, 603015.0001) [MOLECULAR BASIS]
Group A patients are more severely affected and tend to have multisystemic involvement [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 7q21.2-q22.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618454
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5193106
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |