Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Congenital disorder of glycosylation type I · Disorder of protein N-glycosylation
ALG2-congenital disorder of glycosylation
A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.
-
Congenital myasthenic syndrome 14 0 trials