Global Variome shared LOVD

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Phenotype #0000084067 Individual ID 00106252 Associated disease CMYO2A;NEM3 Phenotype details severe; parental DNA not available, autosomal recessive, homozygous for the mutation Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination <01y (before 1 year) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Kristen Nowak Database submission license No license selected Created by Kristen Nowak Date created 2007-11-15 14:36:43 +01:00 (CET) Date last edited 2017-07-07 03:48:29 +02:00 (CEST)

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