Phenotype #0000034688

Individual ID	00047314
Associated disease	epilepsy
Phenotype details	see paper; developmental delay, refractory epilepsy, prolonged survival, no evidence of mitochondrial or peroxisomal dysfunction (blood and urine); EEG nonspecific, background slowing with frequent epileptiform activity rontal and central head regions; EM skeletal muscle showed subtle, nonspecific abnormalities of cristal organization; confocal microscopy of patient fibroblasts showed striking hyperfusion mitochondrial network, ...
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	00y06m
Phenotype/Onset	not meeting expected motor milestones
Protein	-
Owner name	Johan den Dunnen
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2015-08-27 23:03:46 +02:00 (CEST)
Date last edited	2017-03-10 10:54:47 +01:00 (CET)

Global Variome shared LOVD