Global Variome shared LOVD

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Phenotype #0000199305 Individual ID 00260773 Associated disease TTD Phenotype details see paper; …, moderate severity Diagnosis/Initial nonphotosensitive trichothiodystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite TTD-4 Age/Examination - Age/Diagnosis 3y 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 2019-08-06 20:53:35 +02:00 (CEST) Date last edited N/A

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