Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/300912
http://purl.bioontology.org/ontology/OMIM/300912
|
|---|---|
| Preferred Name | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98 |
| Synonyms |
MENTAL RETARDATION, X-LINKED 98
XLID98
MRX98
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MENTAL RETARDATION, X-LINKED 98
XLID98
MRX98
|
|---|---|
| prefLabel | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98
|
| Gene Symbol |
XLID98
NEXMIF
KIAA2022
|
| Scope Statement | Caused by mutation in the neurite extension and migration factor gene (NEXMIF, 300524.0001) [MOLECULAR BASIS]
Onset of seizures in first months or years of life [MISCELLANEOUS]
Some carrier females are unaffected [MISCELLANEOUS]
Onset at birth [MISCELLANEOUS]
Males are more severely affected than females [MISCELLANEOUS]
De novo mutation (in affected females) [MISCELLANEOUS]
Variable phenotype [MISCELLANEOUS]
Incomplete penetrance [MISCELLANEOUS]
See more
See less
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | Xq13.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 300912
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3806730
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |