What is CAMLG-CDG?
CAMLG-CDG is a genetic disorder caused by a change in the CAMLG gene.

A genetic change (known as a mutation, or pathogenic variant) in the CAMLG gene has so far been found in only one reported patient with CAMLG-CDG. This individual has a predominantly neurological phenotype with severe developmental delay, hypotonia, epilepsy and structural brain abnormalities.

How many people are affected by CAMLG-CDG?
CAMLG-CDG is an exceedingly rare disease. To date, only one affected individual has been reported in the medical literature.