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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/615656
http://purl.bioontology.org/ontology/OMIM/615656
|
|---|---|
| Preferred Name | CHROMOSOME 15q11.2 DELETION SYNDROME |
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| prefLabel | CHROMOSOME 15q11.2 DELETION SYNDROME
|
|---|---|
| Gene Symbol |
DEL15q11.2
C15DELq11.2
|
| Scope Statement | Variable phenotype [MISCELLANEOUS]
Deleted region contains 4 genes that are not imprinted, TUBGCP2 (608147), NIPA1 (608145), NIPA2 (608146), and CYFIP1 (606322) [MISCELLANEOUS]
Incomplete penetrance [MISCELLANEOUS]
Contiguous gene deletion syndrome caused by deletion of 300 to 500 kb between BP1 and BP2 on 15q11.2 [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 15q11.2
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 615656
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3180937
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |