Phenotype #0000165302

Individual ID	00216850
Associated disease	HGPS
Phenotype details	mild progeria-like phenotype, with failure to thrive, suggestive facial dysmorphism with thin and scattered, prematurely gray hair, thin and dry skin with visible veins, muscle pseudohypertrophy and reduced body hair. Hyper/hypo-pigmented areas on her neck and upper thorax, normal menses but no breast development; 20y calcification of the aortic valve with mild regurgitation; low bone mass density; increased triglycerides and LDL-cholesterol with low HDL levels
Diagnosis/Initial	progeria
Inheritance	Unknown
Diagnosis/Definite	HGPS
Age/Examination	-
Age/Diagnosis	5y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Florian Barthelemy
Database submission license
Created by	Johan den Dunnen
Date created	2014-07-14 18:26:54 +02:00 (CEST)
Date last edited	2014-07-18 17:36:58 +02:00 (CEST)

Global Variome shared LOVD