Global Variome shared LOVD

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Phenotype #0000164961 Individual ID 00216509 Associated disease HGPS Phenotype details unusually severe progeria (details see paper) Diagnosis/Initial Hutchinson-Gilford progeria syndrome Inheritance Isolated (sporadic) Diagnosis/Definite HGPS Age/Examination - Age/Diagnosis - Age/Onset 0y Phenotype/Onset - Protein ratio progerin:LMNA 1.8 (0.9 for c.1824C>T) Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2008-05-18 14:07:30 +02:00 (CEST) Date last edited 2012-03-09 19:17:22 +01:00 (CET)

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