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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618793
http://purl.bioontology.org/ontology/OMIM/618793
|
|---|---|
| Preferred Name | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62 |
| Synonyms |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 62
MRD62
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 62
MRD62
|
|---|---|
| prefLabel | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62
|
| Gene Symbol |
DLG4
PSD95
MRD62
SAP90
|
| Scope Statement | Older patients may show a Marfanoid habitus [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Caused by mutation in the discs large MAGUK scaffold protein 4 gene (DLG4, 602887.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 17p13.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618793
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5394083
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |