Global Variome shared LOVD

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Phenotype #0000165301 Individual ID 00216849 Associated disease HGPS Phenotype details progeria-like features with growth retardation, atrophic skin, no hair in the chest, pubic or axillary area, alopecia and absent eyebrows/ eyelashes, patchy hypo/hyper-pigmented areas,generalized amyotrophy and lipoatrophy, distal osteolyses and cardiovascular disseminated arteriosclerosis with severe mitral and aortic valve calcification; low HDL-cholesterol; normal psychomotor development Diagnosis/Initial Progeria-like syndrome Inheritance Unknown Diagnosis/Definite HGPS Age/Examination - Age/Diagnosis 12y Age/Onset - Phenotype/Onset - Protein IHC Owner name Florian Barthelemy Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2014-07-11 19:59:44 +02:00 (CEST) Date last edited 2014-07-18 17:32:44 +02:00 (CEST)

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