Phenotype #0000288858

Individual ID	00395659
Associated disease	-
Phenotype details	9y-died from respiratory failure after long airplane trip; birth normal; early development normal; speech normal until 25y but then deteriorated; normal motor development, 2y-deteriorated; 18m-onset seizures; absence seizure, generalized tonic-clonic seizure; no intellectual disability, then delayed; EEG generalized epileptiform activity, slow background; 7y-MRI mild cerebellar atrophy; nerve biopsy with severe axonal loss; 2y6m-unsteady gait; phenotype exacerbated by illness and/or stress; repeated pneumonia, repeated cardiac arrest, profound type II muscle fiber atrophy
Diagnosis/Initial	neurodegenerative disorder
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CONDSIAS
Age/Examination	9y (9 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