Phenotype #0000165305

Individual ID	00216853
Associated disease	HGPS
Phenotype details	short stature and prematurely aged appearance incl. hypercholesterolemia (with no peripheral vascular disease or diabetes), loss of subcutaneous tissue, beaked nose and a thin face, sparse fine hair with patchy hypopigmentation over entire body
Diagnosis/Initial	progeria-like syndrome
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	HGPS
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Florian Barthelemy
Database submission license
Created by	Johan den Dunnen
Date created	2014-09-04 18:16:37 +02:00 (CEST)
Date last edited	2014-09-28 12:17:02 +02:00 (CEST)

Global Variome shared LOVD