SLC35A2, solute carrier family 35 member A2, 7355

N. diseases: 197; N. variants: 18
Disease: Pediatric failure to thrive ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.110 GeneticVariation disease CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.110 GeneticVariation disease BEFREE A 27 month old girl with developmental delay, central hypotonia, cerebral atrophy, and failure to thrive with growth retardation was identified by whole exome sequencing to have a mosaic missense variant in SLC35A2 (c.991G > A). 29907092 2018