Variant: rs1556016642 

    present in Gene: NEXMIF
    present in Chromosome: X
    Position on Chromosome: 74743035
    Alleles of this Variant: CTCTC/-

rs1556016642 in NEXMIF gene and Muscle hypotonia PMID 27568816 2017 De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females.

PMID 25900396 2015 Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.

PMID 23352160 2013 Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.

PMID 24307393 2014 Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

PMID 19524067 2009 Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation.

PMID 26290131 2015 X-linked intellectual disability related genes disrupted by balanced X-autosome translocations.

PMID 26576034 2016 KIAA2022 nonsense mutation in a symptomatic female.

PMID 27358180 2016 De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.

PMID 22531377 2012 Transient expression of Xpn, an XLMR protein related to neurite extension, during brain development and participation in neurite outgrowth.

PMID 23615299 2013 Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.

PMID 15466006 2004 Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males.