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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/300434
http://purl.bioontology.org/ontology/OMIM/300434
|
|---|---|
| Preferred Name | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, STOCCO DOS SANTOS TYPE |
| Synonyms |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, STOCCO DOS SANTOS TYPE
SDSX
MRXSDS
STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, STOCCO DOS SANTOS TYPE
SDSX
MRXSDS
STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME
|
|---|---|
| prefLabel | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, STOCCO DOS SANTOS TYPE
|
| Gene Symbol |
SDSX
MRXSDS
|
| Scope Statement | Caused by mutation in the SHROOM family member 4 gene (SHROOM4, 300579.0001) [MOLECULAR BASIS]
One family and 1 unrelated patient have been reported (last curated April 2017) [MISCELLANEOUS]
Variable features [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | Xp11.2
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| MIMTYPEMEANING | Mendelian phenotype or locus, molecular basis unknown.
|
| notation | 300434
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1845530
|
| OMIM Entry Type | 5
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| OMIM MimType Value | perc
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |