Global Variome shared LOVD

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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 International Created by Johan den Dunnen Date created 2014-09-04 18:19:04 +02:00 (CEST) Date last edited 2014-09-28 12:10:16 +02:00 (CEST)

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