has material basis in germline mutation in SLC10A7 bone disorder congenital disorder of glycosylation SLC10A7-congenital disorder of glycosylation 2018-12-14T19:28:28Z https://github.com/monarch-initiative/mondo/issues/7700 2024-09-01 SLC10A7-CDG MONDO:0100068 Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: - SLC10A7 deficiency 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. SLC10A7-congenital disorder of glycosylation