Global Variome shared LOVD

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Phenotype #0000199310 Individual ID 00260778 Associated disease TTD Phenotype details see paper; ..., hair fractures (trichoschisis), hair alternating light/dark banding pattern (tiger tail), no sun-sensitive skin, ichthyosis, follicular keratosis, delayed physical development, recurrent infections respiratory tract, acromandibular dysplasia Diagnosis/Initial trichothiodystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite TTD 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 2019-08-06 21:36:10 +02:00 (CEST) Date last edited N/A

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