Global Variome shared LOVD

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Phenotype #0000184836 Individual ID 00244871 Associated disease CGL Diagnosis/Initial congenital generalized lipodystrophy Diagnosis/Definite CGL-4 Phenotype details myopathy, percussion-induced muscle mounding, exercise-induced atrial and ventricular arrhythmias, atlantoaxial instability, scoliosis, gastrointestinal dysmotility, IFG Inheritance Familial, autosomal recessive Age/Examination 13y (13 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 2019-06-28 15:04:58 +02:00 (CEST) Date last edited N/A

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