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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/300967
http://purl.bioontology.org/ontology/OMIM/300967
|
|---|---|
| Preferred Name | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 34 |
| Synonyms |
MENTAL RETARDATION, X-LINKED, SYNDROMIC 34
MENTAL RETARDATION, X-LINKED, SYNDROMIC, MIRCSOF-LANGOUET TYPE
MRXSML
MRXS34
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MENTAL RETARDATION, X-LINKED, SYNDROMIC 34
MENTAL RETARDATION, X-LINKED, SYNDROMIC, MIRCSOF-LANGOUET TYPE
MRXSML
MRXS34
|
|---|---|
| prefLabel | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 34
|
| Gene Symbol |
MRXS34
NONO
NRB54
|
| Scope Statement | Three unrelated males have been reported (last curated February 2016) [MISCELLANEOUS]
Caused by mutation in the non-POU domain-containing octamer-binding protein gene (NONO, 300084.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T048
|
| Gene Locus | Xq13.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 300967
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4225417
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |