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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619951
http://purl.bioontology.org/ontology/OMIM/619951
|
|---|---|
| Preferred Name | TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 |
| Synonyms |
TEBIVANED4
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | TEBIVANED4
|
|---|---|
| prefLabel | TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4
|
| Gene Symbol |
H4M
TEBIVANED4
H4C9
HIST1H4I
H4FM
|
| Scope Statement | Three unrelated patients have been reported (last curated July 2022) [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Caused by mutation in the H4 clustered histone 9 gene (H4C9, 602833.0001) [MOLECULAR BASIS]
Phenotypic heterogeneity [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 6p21.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 619951
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5677016
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |