Phenotype #0000180457

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00240392
Associated disease	ENC
Phenotype details	developmental delay; developmental regression; febrile-induced regression 30m; epilepsy; progressive microcephaly; hypotonia; ataxia; myoclonic jerks; cerebellar atrophy; no basal ganglia involvement; hyponatremia upon acute presentation
Diagnosis/Initial	epilepsy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	3y3m (3 years, 3 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-06-19 15:18:02 +02:00 (CEST)
Date last edited	N/A

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