Global Variome shared LOVD

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Phenotype #0000122641 Individual ID 00150237 Associated disease TIDAND Phenotype details see paper; ..., born at term, no hair, dystrophic nails, respiratory distress Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - 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 2018-01-13 15:07:55 +01:00 (CET) Date last edited N/A

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