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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620021
http://purl.bioontology.org/ontology/OMIM/620021
|
|---|---|
| Preferred Name | INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES |
| Synonyms |
IDDADF
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | IDDADF
|
|---|---|
| prefLabel | INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES
|
| Gene Symbol |
PDZD8
IDDADF
|
| Scope Statement | Onset in early childhood [MISCELLANEOUS]
Two consanguineous Middle Eastern families have been reported (last curated August 2022) [MISCELLANEOUS]
Caused by mutation in the PDZ domain-containing protein 8 gene (PDZD8, 614235.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 10q25.3-q26.11
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620021
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5774206
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |