Phenotype #0000288853

Individual ID	00395654
Associated disease	-
Phenotype details	7y-died from seisure; birth normal; early development normal; speech normal until 2.5y but then no further development; normal motor development but then deteriorated; 19m-onset seizures; generalized tonic-clonic seizure; no intellectual disability, then delayed; 2y6m-unsteady gait; phenotype exacerbated by illness and/or stress;
Diagnosis/Initial	neurodegenerative disorder
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CONDSIAS
Age/Examination	7y (7 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-12-08 21:39:46 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD