Disease #04355 (CMS14 (myasthenic syndrome, congenital, type 14, with tubular aggregates (CMS-14)), OMIM:616228)

Official abbreviation CMS14
Name myasthenic syndrome, congenital, type 14, with tubular aggregates (CMS-14)
OMIM ID 616228
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 0
Phenotype entries for this disease 0
Associated with 1 gene ALG2
Associated tissues -
Disease features -
Remarks -