Phenotype #0000296230

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Individual ID	00403490
Associated disease	pyr.kin. deficiency
Phenotype details	no splenectomy, regularly transfused; hemoglobin 9.6 g/dl; no gallstones; iron overload
Diagnosis/Initial	pyruvate kinase deficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	0y8m
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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.