Variant: rs1557043622 

    present in Gene: SLC35A2
    present in Chromosome: X
    Position on Chromosome: 48909843
    Alleles of this Variant: C/A

rs1557043622 in SLC35A2 gene and Acid reflux PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Anteriorly placed anus PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Blue sclera PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Byzanthine arch palate PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Cerebellar vermis atrophy PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Cerebral white matter atrophy PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Congenital overgrowth of lower limb PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Constipation PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Cortical visual impairment PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Decreased CSF homovanillic acid PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Decreased peristalsis PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Esotropia PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Gastrointestinal dysmotility PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Global developmental delay PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Hematocrit increased PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Hyperopia PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Hypoalbuminemia PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Hypoglycemia PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Hypsarrhythmia PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Inappropriate crying PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Increased IgM level PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Increased serum testosterone level PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Infantile Spasm PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Low alkaline phosphatase PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Low posterior hairline PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Lymphocyte count abnormal PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and MCV - raised PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Monocytosis PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Muscle hypotonia PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Narrow forehead PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Neutrophil count abnormal PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Neutrophil count decreased PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Osteopenia PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Pediatric failure to thrive PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Premature adrenarche PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Pyloric Stenosis PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Retinal pigment epithelial mottling PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Salaam Seizures PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Serum creatinine low PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Short stature PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Sleep Apnea, Central PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Sleep Apnea, Obstructive PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Sleep disturbances PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Solute carrier family 35 member A2 congenital disorder of glycosylation PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs1557043622 in SLC35A2 gene and Strabismus PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

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.