SLC10A7-congenital disorder of glycosylation
MONDO:0100068Mondo
Findings
No curated finding names SLC10A7-congenital disorder of glycosylation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0100068), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
2 names
Resolves to: SLC10A7-congenital disorder of glycosylation
- Also called
- SLC10A7 deficiencySLC10A7-CDG