Phenotype #0000325777

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00435592
Associated disease	CPSID
Phenotype details	fever, poor feeding, poor response, hyperammonemia
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	carbamoylphosphate synthetase I deficiency
Age/Examination	00y00m03d (3 days)
Age/Diagnosis	-
Age/Onset	00y00m03d
Phenotype/Onset	fever, poor feeding and poor response
Protein	-
Owner name	Faye Li
Database submission license	No license selected
Created by	Faye Li
Date created	2023-08-05 02:10:41 +02:00 (CEST)
Date last edited	2023-08-07 12:15:59 +02:00 (CEST)

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