Phenotype #0000321838

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00431233
Associated disease	EE
Phenotype details	see paper; ..., basal ganglia abnormality MRI, muscle weakness, myopathy, rhabdomyolysis, neurodevelopmental delay, seizures,infection related deterioration, elevated lactate
Diagnosis/Initial	epileptic encephalopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	09y (9 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-02-04 16:40:16 +01:00 (CET)
Date last edited	2023-02-04 16:51:03 +01:00 (CET)

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