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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen