Variant: rs554294508 

    present in Gene: EXTL3
    present in Chromosome: 8
    Position on Chromosome: 28717441
    Alleles of this Variant: C/T

rs554294508 in EXTL3 gene and IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES PMID 28148688 2017 EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.

PMID 28132690 2017 Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.