Phenotype #0000184828

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00244863
Associated disease	CGL
Diagnosis/Initial	congenital generalized lipodystrophy
Diagnosis/Definite	CGL-2
Phenotype details	pseudoacromegaly, acanthosis nigricans, polycystic ovaries, mild mental retardation, diabetes, elevated liver enzymes, cirrhosis, retinopathy, proteinuria, ESRD (on hemodialysis), diabetic neuropathy, diabetic foot ulcer
Inheritance	Familial, autosomal recessive
Age/Examination	25y (25 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 14:54:20 +02:00 (CEST)
Date last edited	N/A

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