Global Variome shared LOVD

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

Phenotype #0000308417 Individual ID 00416905 Associated disease LGMDR23 Diagnosis/Initial - Diagnosis/Definite - Phenotype details Elevated circulating creatine kinase concentration, Proximal muscle weakness, Hyporeflexia, Seizure; (CK elevation as incidental finding in clarification after seizure, differential diagnosis aspiration event/bolus event. Values between 800 and 1000 U/L, mild proximal muscle weakness, hypo-/reflexia.) Inheritance Unknown Age/Examination 02y (2 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2022-09-09 16:40:39 +02:00 (CEST) Date last edited 2022-09-12 10:28:58 +02:00 (CEST)

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