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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/311510
http://purl.bioontology.org/ontology/OMIM/311510
|
|---|---|
| Preferred Name | WAISMAN SYNDROME |
| Synonyms |
WSMN
BASAL GANGLION DISORDER WITH MENTAL RETARDATION
WSN
PARKINSONISM, EARLY-ONSET, WITH MENTAL RETARDATION
BGMR
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
WSMN
BASAL GANGLION DISORDER WITH MENTAL RETARDATION
WSN
PARKINSONISM, EARLY-ONSET, WITH MENTAL RETARDATION
BGMR
|
|---|---|
| prefLabel | WAISMAN SYNDROME
|
| Gene Symbol |
RAB39B
WSMN
MRX72
XLID72
|
| Scope Statement | Two families have been reported (last curated February 2016) [MISCELLANEOUS]
Caused by mutation in the RAB39B, Ras oncogene family gene (RAB39B, 300774.0003) [MOLECULAR BASIS]
Variable age of onset of parkinsonism (first decade to adulthood) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | Xq28
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 311510
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0796195
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |