Phenotype #0000165302

Individual ID 00216850
Associated disease HGPS
Phenotype details mild progeria-like phenotype, with failure to thrive, suggestive facial dysmorphism with thin and scattered, prematurely gray hair, thin and dry skin with visible veins, muscle pseudohypertrophy and reduced body hair. Hyper/hypo-pigmented areas on her neck and upper thorax, normal menses but no breast development; 20y calcification of the aortic valve with mild regurgitation; low bone mass density; increased triglycerides and LDL-cholesterol with low HDL levels
Diagnosis/Initial progeria
Inheritance Unknown
Diagnosis/Definite HGPS
Age/Examination -
Age/Diagnosis 5y
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