congenital myasthenic syndrome 5
Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner.
MONDO:0018940
congenital myasthenic syndrome
is_a
CMS5
exact
COLQ congenital myasthenic syndrome
exact
Cms Ic
related
EAD
exact
Engel congenital myasthenic syndrome
exact
congenital myasthenic syndrome 5
exact
congenital myasthenic syndrome caused by mutation in COLQ
exact
congenital myasthenic syndrome type 5
exact
myasthenic syndrome, congenital, 5
related
myasthenic syndrome, congenital, type 5
exact