Phenotype #0000238687

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00314929
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	DDCH
Phenotype details	see paper; deafness, dystonia, central hypomyelination, refractory seizure, fluctuating liver function impairment, progressive deterioration with febrile episodes, ...; 5y-deceased
Inheritance	Isolated (sporadic)
Age/Examination	05y (5 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-10-20 20:37:51 +02:00 (CEST)
Date last edited	N/A

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