Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000306962 Individual ID 00415161 Associated disease DKC Inheritance Familial, autosomal recessive Diagnosis/Initial dyskeratosis congenita Age/Examination 26y (26 years) Diagnosis/Definite - Age/Diagnosis - Age/Onset - Phenotype/Onset - Phenotype details 1y-abnormalities in skin pigmentation; 5y-nail dystrophy; no leukoplakia; hair loss, thin eye lashes; no hematological abnormalities; bilateral ptosis, tooth discolouration, intermediate increased response to mitomycin-C, basal carcinoma chest, squamous carcinoma and melanoma on leg, severe response to topical 5-FU treatment 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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