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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616393
http://purl.bioontology.org/ontology/OMIM/616393
|
|---|---|
| Preferred Name | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 38 |
| Synonyms |
PSYCHOMOTOR RETARDATION, EPILEPSY, AND LANGUAGE DISABILITY SYNDROME
MRD38
MENTAL RETARDATION, AUTOSOMAL DOMINANT 38
PRELDS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
PSYCHOMOTOR RETARDATION, EPILEPSY, AND LANGUAGE DISABILITY SYNDROME
MRD38
MENTAL RETARDATION, AUTOSOMAL DOMINANT 38
PRELDS
|
|---|---|
| prefLabel | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 38
|
| Gene Symbol |
MRD38
EEF1A2
DEE33
|
| Scope Statement | Onset in infancy [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Two unrelated patients have been reported (last curated June 2015) [MISCELLANEOUS]
Variable age at onset of seizures [MISCELLANEOUS]
Caused by mutation in the eukaryotic translation elongation factor 1, alpha-2 gene (EEF1A2, 602959.0002) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T048
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| Gene Locus | 20q13
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 616393
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4225343
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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