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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/617237
http://purl.bioontology.org/ontology/OMIM/617237
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|---|---|
| Preferred Name | IMMUNODEFICIENCY 49, SEVERE COMBINED |
| Synonyms |
IMD49
SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE, WITH INTELLECTUAL DISABILITY, SPASTICITY, AND CRANIOFACIAL ABNORMALITIES
SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE, WITH INTELLECTUAL DISABILITY, SPASTICITY, AND CRANIOFACIAL ABNORMALITIES
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | IMD49
SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE, WITH INTELLECTUAL DISABILITY, SPASTICITY, AND CRANIOFACIAL ABNORMALITIES
SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE, WITH INTELLECTUAL DISABILITY, SPASTICITY, AND CRANIOFACIAL ABNORMALITIES
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|---|---|
| prefLabel | IMMUNODEFICIENCY 49, SEVERE COMBINED
|
| Gene Symbol |
IDDFSTA
IMD49
CTIP2
BCL11B
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| Scope Statement | Onset at birth [MISCELLANEOUS]
Two unrelated children have been reported (last curated August 2018) [MISCELLANEOUS]
Mutations occur de novo [MISCELLANEOUS]
Caused by mutation in the BAF chromatin remodeling complex subunit BCL11B gene (BCL11B, 606558.0001) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 14q32.1
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 617237
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4310656
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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