Global Variome shared LOVD

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Phenotype #0000119248 Individual ID 00146507 Associated disease RD Diagnosis/Initial - Diagnosis/Definite - Phenotype details thin, shiny skin exfoliating desquamation, small round open mouth, low-set ears, small pinched nose, joint contractures, distinctive pulmonic atelectasis Inheritance Isolated (sporadic) 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 2009-04-17 13:57:21 +02:00 (CEST) Date last edited 2012-03-09 19:02:29 +01:00 (CET)

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