Phenotype #0000288854

Individual ID	00395655
Associated disease	-
Phenotype details	15y-died respiratory failure; birth normal; early development normal; speech normal until 3.5y but then deteriorated; normal motor development but then deteriorated; 24m-onset seizures; generalized tonic-clonic seizure; no intellectual disability, then delayed; 5y-MRI normal; 3y-unsteady gait; phenotype exacerbated by illness and/or stress; hypotonia with repeated pneumonia, ventilator dependent at time of death
Diagnosis/Initial	neurodegenerative disorder
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CONDSIAS
Age/Examination	15y (15 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