Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:diagnosedBy |
genetic testing
clinical criteria |
| gptkbp:firstDescribed |
1979
B.D. Hall H.H. Hittner |
| gptkbp:frequencyOfCHD7Mutation |
60-70% of cases
|
| https://www.w3.org/2000/01/rdf-schema#label |
CHARGE syndrome
|
| gptkbp:ICD-10_code |
Q87.8
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
CHD7 gene
|
| gptkbp:nameAcronym |
Coloboma, Heart defects, Atresia choanae, Retarded growth and development, Genital abnormalities, Ear abnormalities
|
| gptkbp:OMIM |
214800
|
| gptkbp:organization |
CHARGE Syndrome Foundation
Unique Rare Chromosome Disorder Support Group |
| gptkbp:otherName |
CHARGE association
Hall-Hittner syndrome |
| gptkbp:prevalence |
1 in 8,500 to 10,000 births
|
| gptkbp:riskOfHearingLoss |
high
|
| gptkbp:riskOfIntellectualDisability |
variable
|
| gptkbp:riskOfVisionLoss |
high
|
| gptkbp:symptom |
heart defects
coloboma growth retardation genital abnormalities choanal atresia ear abnormalities |
| gptkbp:treatment |
supportive care
surgical intervention multidisciplinary management |
| gptkbp:bfsParent |
gptkb:CHD7
|
| gptkbp:bfsLayer |
7
|