Global Variome shared LOVD

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Phenotype #0000142711 Individual ID 00180317 Associated disease PMD;HLD1 Phenotype details severe connatal Pelizaeus-Merzbacher disease Diagnosis/Initial - Inheritance Familial, X-linked recessive Diagnosis/Definite - Age/Examination 11m Age/Diagnosis - Age/Onset 0d Phenotype/Onset - Protein - Owner name Jesus Molano Mateos Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2018-09-04 21:41:19 +02:00 (CEST) Date last edited N/A

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