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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618687
http://purl.bioontology.org/ontology/OMIM/618687
|
|---|---|
| Preferred Name | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES |
| Synonyms |
IDDSSBA
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | IDDSSBA
|
|---|---|
| prefLabel | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES
|
| Gene Symbol |
IQSEC1
KIAA0763
IDDSSBA
|
| Scope Statement | Seizure onset in early infancy (family B) [MISCELLANEOUS]
Two unrelated consanguineous families have been reported (last curated December 2019) [MISCELLANEOUS]
Caused by mutation in the IQ motif- and SEC7 domain-containing protein 1 gene (IQSEC1, 610166.0001) [MOLECULAR BASIS]
Onset in infancy [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 3p25.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618687
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5231462
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |