SLC10A7-congenital disorder of glycosylation

Definition

SLC10A7 deficiency is characterized by compound heterozygous mutations in the SLC10A7 gene, a gene of unknown function in humans. It combines overlapping clinical phenotypes characterized by short stature, defective enamel formation (amelogenesis imperfecta), skeletal dysplasia, facial dysmorphism, moderate hearing impairment and mildly impaired intellectual developmen.

Also known as SLC10A7 deficiency, SLC10A7-CDG, SLC10A7-congenital disorder of glycosylation — per MONDO