Condition: Weight less than 3rd percentile
rs867410737
in
ATP5F1D
gene and
Weight less than 3rd percentile
PMID 29478781
2018 Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
rs1557043622
in
SLC35A2
gene and
Weight less than 3rd percentile
PMID 30817854
2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.