Disorder "Ellis Van Creveld syndrome"
Found 1 record
Disorder information
Disorder name:
Ellis Van Creveld syndrome
Disoder ID:
OMIM entry:
Synonyms:
Mesodermic dysplasia, Chondroectodermal dysplasia, mesodermic dysplasia, Ellis-van Creveld syndrome
Definition:
Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Risk factor(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| EFCAB7 | EFCAB7:rs775707709 | Expressivity | Risk factor | Pedigree analysis and gene activity study | EFCAB7 may modify the phenotype by interacting with EVC.more | more |
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