Phenotype #0000328675

Individual ID	00438777
Associated disease	MD
Phenotype details	severe intellectual disability; CK level 300-600IU; muscle weakness; no movement disorder; 6m-onset seizure; infection-related seizures; bilateral tonic-clonic seizure, generalized onset tonic seizures; no status epilepticus; epilepsy course Brodie class A; EEG normal background, ultifocal spikes, sharp, slow and spike-waves, mainly left centro-parieto-temporal; MRI brain normal
Diagnosis/Initial	muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMDR18
Age/Examination	13y-16y
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-10-24 15:32:51 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD