Global Variome shared LOVD

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

Phenotype #0000175632 Individual ID 00235371 Associated disease JDSCD Phenotype details see paper; ... Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite PDMCS Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Marco Ritelli Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Marco Ritelli Date created 2019-05-24 10:48:22 +02:00 (CEST) Date last edited 2025-06-05 17:21:19 +02:00 (CEST)

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