Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618205
http://purl.bioontology.org/ontology/OMIM/618205
|
|---|---|
| Preferred Name | SNIJDERS BLOK-CAMPEAU SYNDROME |
| Synonyms |
SNIBCPS
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SPEECH DELAY, AND DYSMORPHIC FACIES
IDDMSF
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | SNIBCPS
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SPEECH DELAY, AND DYSMORPHIC FACIES
IDDMSF
|
|---|---|
| prefLabel | SNIJDERS BLOK-CAMPEAU SYNDROME
|
| Gene Symbol |
SNIBCPS
CHD3
|
| Scope Statement | Some patients inherit the mutation from a mildly affected parent [MISCELLANEOUS]
Variable severity and features [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
Caused by mutation in the chromodomain helicase DNA-binding protein 3 gene (CHD3, 602120.0001) [MOLECULAR BASIS]
De novo mutation (in most patients) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 17p13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618205
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4748701
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |