Global Variome shared LOVD

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

Phenotype #0000244401 Individual ID 00325914 Associated disease EVC Phenotype details stillborn child, ventricular septal defect, short limbs with postaxial polydactyly hands; radiographs short limbs, classical pelvic configuration Diagnosis/Initial Ellis van Creveld syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite EVC 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 2021-01-05 09:10:52 +01:00 (CET) Date last edited N/A

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