Global Variome shared LOVD

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Phenotype #0000039676 Individual ID 00052951 Associated disease DKCB1 Phenotype details ages diagnosis II2 16y, II3 20y, II5 15y; all reticular skin pigmentation over neck and upper extremities, thickening skin palms/soles; dystrophic changes nails, abnormal dentition (II3, II5 less severe); II2 hypocellular bone marrow with peripheral pancytopenia was only observed; no leukoplakia Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - 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 2015-10-26 19:23:22 +01:00 (CET) Date last edited N/A

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