Phenotype #0000166525

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00218072
Associated disease	-
Phenotype details	see paper; ...
Diagnosis/Initial	pyruvate carboxylase deficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	pyruvate carboxylase deficiency
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Emanuele Coci
Database submission license	No license selected
Created by	Emanuele Coci
Date created	2019-01-22 00:01:12 +01:00 (CET)
Date last edited	2021-08-11 11:19:00 +02:00 (CEST)

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