Phenotype #0000288859

Individual ID	00395660
Associated disease	-
Phenotype details	birth normal; early development normal; normal speech but then deteriorated; 14m-walk, 19m-ataxia, poor balance; 16m-onset seizures; absence seizure, generalized tonic-clonic seizure; no intellectual disability, then delayed; EEG generalized epileptiform activity, slow background; 7y-MRI mild cerebellar atrophy; 20m-unsteady gait; phenotype exacerbated by illness and/or stress; normal hearing but then developed severe SNHL, severe kyphoscoliosis, one episode of cardiac arrest
Diagnosis/Initial	neurodegenerative disorder
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CONDSIAS
Age/Examination	3y (3 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