Global Variome shared LOVD

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Phenotype #0000306957 Individual ID 00415156 Associated disease DKC Inheritance Familial, autosomal recessive Diagnosis/Initial dyskeratosis congenita Age/Examination 2y (2 years) Diagnosis/Definite - Age/Diagnosis - Age/Onset - Phenotype/Onset - Phenotype details 1y-abnormalities in skin pigmentation; 1y-nail dystrophy; leukoplakia; hair loss, thin eye lashes; normal blood count, raised HbF; low IgM; recurrent infections in first year, intrauterine growth restriction, gastro-oesophageal reflux, failure to thrive Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-08-08 19:48:19 +02:00 (CEST) Date last edited N/A

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