Global Variome shared LOVD

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Phenotype #0000175628 Individual ID 00235367 Associated disease ? Diagnosis/Initial - Diagnosis/Definite CAMRQ-4 Phenotype details see paper; ..., encephalopathy, intellectual disability, severe hypotonia, chorea, optic atrophy 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 2019-05-24 10:30:59 +02:00 (CEST) Date last edited N/A

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