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.