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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/300861
http://purl.bioontology.org/ontology/OMIM/300861
|
|---|---|
| Preferred Name | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHUDLEY-SCHWARTZ TYPE |
| Synonyms |
MRXSCS
MENTAL RETARDATION, X-LINKED, WITH SEIZURES, HYPOGAMMAGLOBULINEMIA, AND GAIT DISTURBANCE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHUDLEY-SCHWARTZ TYPE
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MRXSCS
MENTAL RETARDATION, X-LINKED, WITH SEIZURES, HYPOGAMMAGLOBULINEMIA, AND GAIT DISTURBANCE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHUDLEY-SCHWARTZ TYPE
|
|---|---|
| prefLabel | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHUDLEY-SCHWARTZ TYPE
|
| Gene Symbol | MRXSCS
|
| notation | 300861
|
| Scope Statement | One family with 3 affected males has been reported (as of October 2011) [MISCELLANEOUS]
|
| OMIM MimType Value | perc
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 5
|
| type | |
| Has manifestation |
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| MIMTYPEMEANING | Mendelian phenotype or locus, molecular basis unknown.
|
| Gene Locus | Xq21.33-q23
|
| tui | T048
|
| cui | C3275471
|
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