Global Variome shared LOVD

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

Phenotype #0000357034 Individual ID 00472225 Associated disease ? Diagnosis/Initial LGMD Diagnosis/Definite Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome Phenotype details Hearing impairment, Proximal muscle weakness in lower limbs, Elevated serum creatinine kinase Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Camille Verebi Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Camille Verebi Date created 2026-01-19 14:52:05 +01:00 (CET) Date last edited 2026-02-06 10:21:15 +01:00 (CET)

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