Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000165303 Individual ID 00216851 Associated disease HGPS Phenotype details progeroid appearance with alopecia, sparse eyebrows, and patchy skin hyperpigmentation and hypopigmentation. He suffered of osteopenia, type II diabetes mellitus, hypertension, hyperlipidemia and peripheral vascular disease with claudication. He underwent triple bypass surgery and aortic valve replacement due to aortic stenosis. Diagnosis/Initial progeria-like syndrome Inheritance Familial, autosomal dominant Diagnosis/Definite HGPS Age/Examination - Age/Diagnosis 11y Age/Onset - Phenotype/Onset short stature Protein - Owner name Florian Barthelemy Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2014-09-03 03:52:35 +02:00 (CEST) Date last edited 2014-09-28 12:02:51 +02:00 (CEST)

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.