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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619877
http://purl.bioontology.org/ontology/OMIM/619877
|
|---|---|
| Preferred Name | DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME |
| Synonyms |
DENNED
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | DENNED
|
|---|---|
| prefLabel | DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME
|
| Gene Symbol |
ZNF526
KIAA1951
DENNED
|
| Scope Statement | Caused by mutation in the zinc finger protein 526 gene (ZNF526, 614387.0001) [MOLECULAR BASIS]
Onset in early infancy [MISCELLANEOUS]
Clinical variability [MISCELLANEOUS]
Five patients from 4 unrelated families have been reported (last curated May 2022) [MISCELLANEOUS]
Seizures may be refractory [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 19q13.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 619877
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5676987
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |