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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/615547
http://purl.bioontology.org/ontology/OMIM/615547
|
|---|---|
| Preferred Name | SCHAAF-YANG SYNDROME |
| Synonyms |
PWLS
CHITAYAT-HALL SYNDROME
PRADER-WILLI-LIKE SYNDROME
SHFYNG
ARTHROGRYPOSIS, DISTAL, WITH HYPOPITUITARISM, MENTAL RETARDATION, AND FACIAL ANOMALIES
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
PWLS
CHITAYAT-HALL SYNDROME
PRADER-WILLI-LIKE SYNDROME
SHFYNG
ARTHROGRYPOSIS, DISTAL, WITH HYPOPITUITARISM, MENTAL RETARDATION, AND FACIAL ANOMALIES
|
|---|---|
| prefLabel | SCHAAF-YANG SYNDROME
|
| Gene Symbol |
SHFYNG
MAGEL2
NDNL1
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| Scope Statement | Patients only affected if mutation occurs on the paternal allele [MISCELLANEOUS]
Some patients die in utero with fetal akinesia whereas others can live with disability [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
Caused by mutation in the mage-like 2 gene (MAGEL2, 605283.0001) [MOLECULAR BASIS]
Highly variable phenotype [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 15q11.2
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 615547
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C5575066
C1859724
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| Moved from | 208080
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |