Global Variome shared LOVD

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

Phenotype #0000357038 Individual ID 00472229 Associated disease MDDGC14;LGMD2T Phenotype details Myopathy, reduced muscle fiber alpha dystroglycan, Intellectual disability mild, elevated serum creatinine kinase Diagnosis/Initial Alphadystroglycanopathy Inheritance Unknown Diagnosis/Definite Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Camille Verebi Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Camille Verebi Date created 2026-01-19 15:27:12 +01:00 (CET) Date last edited 2026-02-06 10:21:15 +01:00 (CET)

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