Variant: rs1556019107 

    present in Gene: PHF6
    present in Chromosome: X
    Position on Chromosome: 134415106
    Alleles of this Variant: C/T

rs1556019107 in PHF6 gene and Dysmorphic features PMID 13871358 1962 An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder.

PMID 14756673 2004 The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.

PMID 27633282 2016 Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function.

PMID 24092917 2013 A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.

PMID 27094817 2016 Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.

PMID 12415272 2002 Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.

rs1556019107 in PHF6 gene and Multiple congenital anomalies PMID 13871358 1962 An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder.

PMID 24092917 2013 A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.

PMID 27094817 2016 Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.

PMID 14756673 2004 The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.

PMID 12415272 2002 Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.

PMID 27633282 2016 Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function.

rs1556019107 in PHF6 gene and Muscle hypotonia PMID 24092917 2013 A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.

PMID 27633282 2016 Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function.

PMID 14756673 2004 The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.

PMID 27094817 2016 Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.

PMID 12415272 2002 Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.

PMID 13871358 1962 An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder.