Phenotype #0000039678

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00052953
Associated disease	DKCB2
Phenotype details	12y-dyskeratosis congenita, mucocutaneous triad of nail dystrophy, leucoplakia, reticulate skin pigmentation; developed peripheral pancytopenia because of progressive bone marrow failure; no other somatic abnormalities reported
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2015-10-26 20:01:11 +01:00 (CET)
Date last edited	N/A

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