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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619934
http://purl.bioontology.org/ontology/OMIM/619934
|
|---|---|
| Preferred Name | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 |
| Synonyms |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 68
MRD68
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 68
MRD68
|
|---|---|
| prefLabel | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68
|
| Gene Symbol |
MRD68
KIAA0304
DYT28
MLL4
KMT2B
|
| Scope Statement | Variable severity [MISCELLANEOUS]
Onset in infancy or early childhood [MISCELLANEOUS]
Caused by mutation in the lysine-specific methyltransferase 2B gene (KMT2B, 606834.0009) [MOLECULAR BASIS]
De novo mutation (in most patients) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T048
|
| Gene Locus | 19q13.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 619934
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5677008
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |