Phenotype #0000070596

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00092261
Associated disease	COXPD10
Phenotype details	2 sibs with moderate IDD, treatment resistant epileptic encephalopathy, myopathy, recurrent rhabdomyolysis; seizure improvement on ketogenic diet mitochondrial disease (respiratory chain complex I and IV deficiency)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2016-12-16 19:09:22 +01:00 (CET)
Date last edited	N/A

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