Phenotype #0000231725

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00305878
Associated disease	DDCH
Phenotype details	deafness, dystonia, central hypomyelination, refractory seizure, and fluctuating liver function impairment
Diagnosis/Initial	-
Inheritance	Familial, X-linked
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Ni-Chung Lee
Database submission license	No license selected
Created by	Ni-Chung Lee
Date created	2020-07-02 15:37:14 +02:00 (CEST)
Date last edited	2020-07-03 08:42:09 +02:00 (CEST)

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