Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000244529 Individual ID 00326044 Associated disease EVC Phenotype details heart AV canal defect; short/thin upper lip, short/multiple frenula, irregular alveolar ridge, natal teeth, short broad nose, long philtrum; postaxial polydactyly hands, limb shortening mesomelic, narrow chest, nail hypoplasia; short long bones, short ribs with narrow chest, small iliac bones with downward spike Diagnosis/Initial Ellis-van Creveld syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite EVC2 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-01-06 19:57:34 +01:00 (CET) Date last edited 2021-01-06 19:59:11 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.