Phenotype #0000088605

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00113123
Associated disease	OTCD
Phenotype details	clinical symptoms compatible with OTCD, positive allopurinol test, normal plasma amino-acid profile
Diagnosis/Initial	-
Inheritance	Familial, X-linked
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Lenka Dvořáková
Database submission license	No license selected
Created by	Lenka Dvořáková
Date created	2009-08-21 13:52:15 +02:00 (CEST)
Date last edited	2011-01-24 22:51:06 +01:00 (CET)

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