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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619475
http://purl.bioontology.org/ontology/OMIM/619475
|
|---|---|
| Preferred Name | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES |
| Synonyms |
DDISBA
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | DDISBA
|
|---|---|
| prefLabel | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
|
| Gene Symbol |
DDISBA
SPTBN1
|
| Scope Statement | Caused by mutation in the spectrin, beta, nonerythrocytic, 1 gene (SPTBN1, 182790.0001) [MOLECULAR BASIS]
Highly variable phenotype [MISCELLANEOUS]
De novo mutation (in most patients) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 2p21
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 619475
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5561957
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |