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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/612337
http://purl.bioontology.org/ontology/OMIM/612337
|
|---|---|
| Preferred Name | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 22 |
| Synonyms |
MRD22
CHROMOSOME 1qter DELETION SYNDROME
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
CHROMOSOME 1q43-q44 DELETION SYNDROME
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MRD22
CHROMOSOME 1qter DELETION SYNDROME
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
CHROMOSOME 1q43-q44 DELETION SYNDROME
|
|---|---|
| prefLabel | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 22
|
| Gene Symbol |
ZBTB18
ZNF238
MRD22
RP58
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| Scope Statement | Incomplete penetrance of some features [MISCELLANEOUS]
Caused by mutation in the zinc finger and BTB domain containing 18 gene (ZBTB18, 608433.0001) [MOLECULAR BASIS]
Contiguous gene deletion syndrome (in most patients) [MISCELLANEOUS]
Variable expressivity [MISCELLANEOUS]
Contiguous gene deletion syndrome caused by deletion (3.5Mb) of 1q32-q44 [MOLECULAR BASIS]
Highly variable phenotype [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 1q44
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 612337
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2676727
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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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