Phenotype #0000184835

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00244870
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, tight heel cords, gastrointestinal dysmotility, IFG, IGT, no hepatic steatosis
Inheritance	Familial, autosomal recessive
Age/Examination	16y (16 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
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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