Global Variome shared LOVD

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

Phenotype #0000351263 Individual ID 00465816 Associated disease ? Diagnosis/Initial joint laxity Diagnosis/Definite ARCL3A Phenotype details see paper; ..., Skin and joint laxity, facial dysmorphism (triangular face, congenital cataract, hypertelorism, short nose, low-set ears, long philtrum, and small chin), Wormian bones, camptodactyly of the thumbs, genu valgum, ventricular septal defect Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-06-07 12:17:17 +02:00 (CEST) Date last edited N/A

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