Phenotype #0000116596

Individual ID 00143818
Associated disease ?
Diagnosis/Initial limb-girdle congenital myasthenic syndromes (CMS)
Diagnosis/Definite CMS-9
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Phenotype details see paper; fatigable limb weakness from early childhood on, ...
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Johan den Dunnen