Phenotype #0000187306

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00248297
Associated disease	NAGSD
Phenotype details	Index: 2d-vomiting, feeding problems, hyperammonemia was diagnosed and treated with hemodiafiltration; 1y-normal development under treatment with NCG Elder sibling: onset first few days, death in early neonatal period, no ammoniameasurements done
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	NAGSD
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-07-21 11:58:51 +02:00 (CEST)
Date last edited	N/A

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