Phenotype #0000306964

Individual ID 00415163
Associated disease DKC
Inheritance Familial, autosomal recessive
Diagnosis/Initial dyskeratosis congenita
Age/Examination 4y (4 years)
Diagnosis/Definite -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Phenotype details 1y-abnormalities in skin pigmentation; 2y-nail dystrophy; no leukoplakia; no hematological abnormalities; low IgA; epiphora, small testes; short stature
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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