Variant: rs1057516037 

    present in Gene: HDAC8
    present in Chromosome: X
    Position on Chromosome: 72464626
    Alleles of this Variant: TGGAG/AC

rs1057516037 in HDAC8 gene and CORNELIA DE LANGE SYNDROME 5 PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516037 in HDAC8 gene and Global developmental delay PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516037 in HDAC8 gene and Microcephaly (physical finding) PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516037 in HDAC8 gene and Short stature PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.