Global Variome shared LOVD

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Phenotype #0000232022 Individual ID 00132619 Associated disease progeroid Diagnosis/Initial progeroid syndrome Diagnosis/Definite - Phenotype details see paper; ..., 54y-bilateral cataracts , tight atrophic skin: 30y-graying and thinning of hair; type II diabetes mellitus, osteoporosis, overall aged appearance; 68y-height 162 cm, weight 40 kg; 56y-papillary thyroid cancer; no cognitive impairment, no sun sensitivity; sister possibly affected Inheritance Unknown Age/Examination - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license No license selected Created by Johan den Dunnen Date created 2020-07-10 16:52:27 +02:00 (CEST) Date last edited N/A

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