SLC10A7-congenital disorder of glycosylation

MONDO:0100068

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

0 clinical trials for this condition and its sub-types, 0 tagged with SLC10A7-congenital disorder of glycosylation itself.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Part of

↑ Bone disorder (6305) ↑ Congenital disorder of glycosylation (36)

Including sub-types (0) Tagged with SLC10A7-congenital disorder of glycosylation (0)

We haven't found any trials for this condition yet. Follow it to get notified when new trials appear.