Phenotype #0000070607

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00092271
Associated disease	DEE7
Phenotype details	profound IDD, epileptic encephalopathy, hypotonia, dysautonomia, microcephaly; CSF GABA free 0.007 umol/L (reference range: 0.017- 0.067) CSF GABA total 4.300 umol/L (reference range: 4.2-13.4) low CSF GABA, mitochondrial complex I and II deficiency
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
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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