Global Variome shared LOVD

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Phenotype #0000232020 Individual ID 00306176 Associated disease progeroid Diagnosis/Initial progeroid syndrome Diagnosis/Definite XFEPS Phenotype details see paper; ..., frequent sunburns, unique combination of progeroid symptoms, neurologic; hepatobiliary, musculoskeletal and haematopoietic symptoms Inheritance Familial, autosomal recessive Age/Examination 15y (15 years) 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 2020-07-10 16:29:49 +02:00 (CEST) Date last edited N/A

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