SLC10A7-congenital disorder of glycosylation
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.
MONDO:0005381
bone disorder
is_a
MONDO:0015286
congenital disorder of glycosylation
is_a
SLC10A7 deficiency
exact
SLC10A7-CDG
exact
SLC10A7-congenital disorder of glycosylation
exact