Global Variome shared LOVD

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Phenotype #0000172604 Individual ID 00228666 Associated disease DPDD Phenotype details see paper; ..., congenital blindness delayed early gross motor and social milestones; 8m-visual impairment improved, development normalized; 10's-gastrointestinal dysmotility; 19y-intellectually normal Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite DPDD Age/Examination 19y (19 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Enzyme/Activity - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-03-23 16:38:19 +01:00 (CET) Date last edited N/A

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