Global Variome shared LOVD

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

Phenotype #0000358017 Individual ID 00473222 Associated disease NMD Diagnosis/Initial neuromuscular disorder Diagnosis/Definite - Phenotype details onset infancy; Muscle weakness, more prominent in lower limbs; Inability to walk; Hx of febrile seizures 1-2y old. Non-consanguineous parents. Inheritance Unknown Age/Examination 28y (28 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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