Global Variome shared LOVD

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

Phenotype #0000351262 Individual ID 00465815 Associated disease ? Diagnosis/Initial joint laxity Diagnosis/Definite ARCL3A Phenotype details see paper; ..., Cutis laxa, visible veins, sparse hair and facial dysmorphism (progeroid appearance, prominent forehead, midface hypoplasia, prominent mandible, an upturned nose with hypoplastic alae nasi and large low-set ears) cataract, laryngomalacia, seizure disorder, severe global developmental delay, hypotonia, feeding difficulties and poor postnatal growth, scoliosis, inguinal hernia, out-turned lower extremities, talipes equinovarus, atrial septal defect secundum 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.