Statements (34)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:abbreviation |
gptkb:EEC
|
| gptkbp:affects |
gptkb:skin
nails teeth face limbs hair urinary tract |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
1970
|
| gptkbp:frequency |
rare
|
| gptkbp:fullName |
Ectrodactyly–Ectodermal dysplasia–Cleft syndrome
|
| https://www.w3.org/2000/01/rdf-schema#label |
EEC syndrome
|
| gptkbp:ICD-10_code |
Q87.0
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:TP63_gene
|
| gptkbp:OMIM |
129900
|
| gptkbp:symptom |
cleft lip
cleft palate ectodermal dysplasia ectrodactyly sparse hair urinary tract abnormalities abnormal nails abnormal teeth lacrimal duct abnormalities |
| gptkbp:synonym |
Ectrodactyly-ectodermal dysplasia-cleft syndrome
Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome |
| gptkbp:treatment |
surgical correction
symptomatic management |
| gptkbp:bfsParent |
gptkb:p63
|
| gptkbp:bfsLayer |
6
|