Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/309555
http://purl.bioontology.org/ontology/OMIM/309555
|
|---|---|
| Preferred Name | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, GUSTAVSON TYPE |
| Synonyms |
MRXSG
MENTAL RETARDATION WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES
GUSTAVSON SYNDROME
GUST
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MRXSG
MENTAL RETARDATION WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES
GUSTAVSON SYNDROME
GUST
|
|---|---|
| prefLabel | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, GUSTAVSON TYPE
|
| Gene Symbol |
MRXS11
MRXSG
MRXSH
RBMX
|
| Scope Statement | Most carrier females are unaffected and show skewed X-inactivation [MISCELLANEOUS]
One affected female has been reported [MISCELLANEOUS]
Caused by mutation in the RNA-binding motif protein, X chromosome gene (RBMX, 300199.0002) [MOLECULAR BASIS]
Most affected males die in infancy or early childhood [MISCELLANEOUS]
Onset in utero or at birth [MISCELLANEOUS]
One large Swedish family has been reported (last curated January 2024) [MISCELLANEOUS]
See more
See less
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | Xq26
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 309555
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0795965
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |