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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618587
http://purl.bioontology.org/ontology/OMIM/618587
|
|---|---|
| Preferred Name | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES |
| Synonyms |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 60, WITH SEIZURES
MRD60
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 60, WITH SEIZURES
MRD60
|
|---|---|
| prefLabel | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES
|
| Gene Symbol |
CLAPM1
MRD60
AP2M1
|
| Scope Statement | Four unrelated patients have been reported (last curated September 2019) [MISCELLANEOUS]
Seizure onset between 1 and 4 years of age [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Caused by mutation in the adaptor-related protein complex 2, mu-1 subunit gene (AP2M1, 601024.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 3q28
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 618587
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5231497
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |