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Disease Summary
Associated Targets (0)

Explore Associated Targets
Mondo Description 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 Term and Equivalent IDs
MONDO:0100068:  SLC10A7-CDG
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found