Global Variome shared LOVD

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Phenotype #0000306960 Individual ID 00415159 Associated disease DKC Inheritance Familial, autosomal recessive Diagnosis/Initial dyskeratosis congenita Age/Examination 10m Diagnosis/Definite - Age/Diagnosis - Age/Onset - Phenotype/Onset - Phenotype details 1y-abnormalities in skin pigmentation; 1y-nail dystrophy; no leukoplakia; hair loss, thin eye lashes; anemia (98 g/L), other blood counts normal; low IgA; short stature, recurrent respiratory/gastro-intestinal infections first year 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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