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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/608636
http://purl.bioontology.org/ontology/OMIM/608636
|
|---|---|
| Preferred Name | CHROMOSOME 15q11-q13 DUPLICATION SYNDROME |
| Synonyms |
DUPLICATION 15q11-q13 SYNDROME
CHROMOSOME 15q11.2 DUPLICATION SYNDROME
AUTISM, SUSCEPTIBILITY TO, 4
AUTS4
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
DUPLICATION 15q11-q13 SYNDROME
CHROMOSOME 15q11.2 DUPLICATION SYNDROME
AUTISM, SUSCEPTIBILITY TO, 4
AUTS4
|
|---|---|
| prefLabel | CHROMOSOME 15q11-q13 DUPLICATION SYNDROME
|
| Gene Symbol |
C15DUPq11-q13
DUP15q11-q13
AUTS4
|
| Scope Statement | Genetic heterogeneity (see 209850) [MISCELLANEOUS]
Onset by 3 years of age [MISCELLANEOUS]
Occurs in 2-5 per 10,000 individuals [MISCELLANEOUS]
Associated with Fragile X syndrome (300624) [MISCELLANEOUS]
Incomplete penetrance [MISCELLANEOUS]
Associated with untreated phenylketonuria (261600) [MISCELLANEOUS]
Male to female ratio 4:1 [MISCELLANEOUS]
Associated with tuberous sclerosis (191100) [MISCELLANEOUS]
Contiguous gene syndrome caused by 6-Mb duplication of 15q11-q13 [MOLECULAR BASIS]
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|
| type | |
| Has manifestation |
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|
| tui |
T047
T033
|
| Gene Locus | 15q11
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 608636
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C3807826
C1876176
C2675336
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |