Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000164957 Individual ID 00216505 Associated disease MAD Diagnosis/Initial mandibuloacral dysplasia Diagnosis/Definite MADA Phenotype details progeria, rigid spine muscular dystrophy; CPK elevated (HP:0003236) 1808 Inheritance Unknown Age/Examination - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2008-04-19 20:55:52 +02:00 (CEST) Date last edited 2013-02-01 19:44:13 +01:00 (CET)

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