Global Variome shared LOVD

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

Phenotype #0000351246 Individual ID 00465804 Associated disease ? Diagnosis/Initial - Diagnosis/Definite PDMCS Phenotype details see paper; ..., dysmorphic features (anteverted nares, small upturned nose, hypertelorism, slight frontal bossing), short proximal bones (femur, humerus) hypermobile joints, downslanting palpebral fissures, congenital sensorineural deafness, ventricular septal defect, pulmonary stenosis (surgically corrected) Inheritance Unknown Age/Examination 04y (4 years) 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 2025-06-05 18:31:17 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.