Global Variome shared LOVD

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Phenotype #0000187322 Individual ID 00248324 Associated disease NEM Phenotype details see paper; ..., typical form, normal prenancy/delivery, VSD, finger contractures, focal renal echogenicity; 5y-ambulant Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 05y (5 years) Age/Diagnosis - 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 2019-07-21 21:19:54 +02:00 (CEST) Date last edited N/A

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