Phenotype #0000328679

Individual ID	00438781
Associated disease	MD
Phenotype details	moderate-severe intellectual disability; CK level 300-500IU; muscle weakness; muscle biopsy unspecific myopathic pattern; movement disorder; 14m-onset seizure; infection-related seizures; focal onset to bilateral tonic-clonic seizure, bilateral tonic-clonic seizure; status epilepticus (febrile status epilepticus); epilepsy course Brodie class B; EEG slow background, multifocal spike-waves, mainly left parieto-occipital and right parieto-temporal; MRI brain generalized decrease in cortico-subcortical volume
Diagnosis/Initial	muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMDR18
Age/Examination	5y-8y
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