|?|| (C;C) (C;T) (T;T) ||28|
] male suicidal behavior rs1383180
| Disease Association
|| Defects in EVC are the cause of Weyers acrodental dysostosis (WAD) (MIM:193530). WAD is an autosomal dominant disorder characterized by dysplastic nails, postaxial polydactyly, acrofacial dysostosis, short limbs and short stature. The phenotype is milder than Ellis-van Creveld syndrome.
[PMID 18947413] Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.
|| not reviewed
|| Insufficiently evaluated not reviewed
[PMID 26251756] EVC gene polymorphisms and risks of isolated hypospadias - a preliminary study