Global Variome shared LOVD

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Phenotype #0000082903 Individual ID 00105012 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details adult-onset progressive encephalocardiomyopathy; see paper; ...; birth-bilateral cryptorchidism, malformations; early adulthood-slowly progressive neurological syndrome, with cerebellar/pyramidal signs, cognitive impairment, depression, dilating cardiomyopathy Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-06-14 23:27:55 +02:00 (CEST) Date last edited N/A

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