Phenotype #0000165304

Individual ID	00216852
Associated disease	HGPS
Phenotype details	short stature, overall progeroid appearance, sclerodermatous atrophic skin, premature graying and loss of hair and dystrophic nails. Secondary sexual characteristics were under-developed with absent breast tissue and sparse axillary and pubic hair. She was treated for hyperlipidemia and hypertension. She had significant coronary artery disease, aortic calcification and mitral valve prolapse. She did not have ocular cataracts, but had otosclerosis.
Diagnosis/Initial	Progeria-like syndrome
Inheritance	Unknown
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	2014-09-03 03:57:47 +02:00 (CEST)
Date last edited	2014-09-17 16:39:45 +02:00 (CEST)

Global Variome shared LOVD