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 InternationalCreative Commons License
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)

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