Phenotype #0000306960

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00415159
Associated disease	DKC
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	dyskeratosis congenita
Age/Examination	10m
Diagnosis/Definite	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Phenotype details	1y-abnormalities in skin pigmentation; 1y-nail dystrophy; no leukoplakia; hair loss, thin eye lashes; anemia (98 g/L), other blood counts normal; low IgA; short stature, recurrent respiratory/gastro-intestinal infections first year
Protein	-
Owner name	Johan den Dunnen
Database submission 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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