Phenotype #0000296104

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00403364
Associated disease	pyr.kin. deficiency
Phenotype details	no splenectomy, not transfused; hemoglobin 13.1 g/dl; no gallstones
Diagnosis/Initial	pyruvate kinase deficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	35y8m
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-02-18 12:12:02 +01:00 (CET)
Date last edited	N/A

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