Phenotype #0000078678

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00100477
Associated disease	DKCA3
Phenotype details	autosomal-dominant dyskeratosis congenita, Hoyeraal Hreidarsson syndrome, and Revesz syndrome
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Brenda Potrykus
Date created	2013-04-23 12:00:00 +02:00 (CEST)
Date last edited	N/A

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