<unk>  is an autosomal recessive congenital disorder of glycosylation caused by biallelic pathogenic variants in<unk> . The first cases of<unk>  were described in 2004, and the causative gene was identified at the same time. This disorder was originally designated CDG-IK, under earlier nomenclature for congenital disorders of glycosylation. Clinically, individuals with<unk>  have developmental delay, hypotonia, seizures and microcephaly. Fewer than 60 cases of<unk>  have been confirmed in published literature.<unk>  can be suspected based on clinical findings, and abnormal serum transferrin glycosylation test results. Confirmation of the diagnosis can be performed based on sequence analysis of<unk> . The analysis of<unk>  is complicated by the presence of a pseudogene. There are no specific treatments for<unk> , and most care consists of managing symptoms.
ALG1-CDG
SRD5A3-CDG
BGR-34
ALD-52
VIR-576
TA-CD
ARCT-154
GRAd-COV2