Phenotype #0000165306

Individual ID 00216854
Associated disease HGPS
Phenotype details short stature (147 cm at 59 years); 36y-hysterectomy, musculoskeletal problems including non-congenital hip dysplasia; back operations for ruptured discs; chest tightness and dyspnea in; her 30s; 40y-bones were osteoporotic; 54y-myocardial infarctions with multivessel bypass surgery; 56y-diabetes; no particular facial appearance
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