Clinical features
The only reported patient with CAMLG-CDG has a predominantly neurological phenotype with severe developmental delay, hypotonia, epilepsy and structural brain abnormalities.
Molecular characteristics
The only variant identified so far is the c.633+4A>G mutation which was shown to affect splicing of the CAMLG gene and lead to lack of functional protein.
Prevalence
CAMLG-CDG is an exceedingly rare disease. To date, only one affected individual has been reported in the literature.
Inheritance
CAMLG-CDG is an autosomal recessive disorder.
Management
Treatment is symptomatic and multidisciplinary; symptoms are mostly neurological.
CAMLG