Phenotype #0000187308

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00248299
Associated disease	NAGSD
Phenotype details	Index: 4d-onset; 22d-death hyperammonemic encephalopathy: Sibling: 2d-onset, treated but unstable until NCG started at 3m; 13y-normal neurological status
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	NAGSD
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johannes Häberle
Database submission license	No license selected
Created by	Johannes Häberle
Date created	2016-02-01 11:59:30 +01:00 (CET)
Date last edited	N/A

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