Variant: rs724159949 

    present in Gene: LOC105372797;DYRK1A
    present in Chromosome: 21
    Position on Chromosome: 37486563
    Alleles of this Variant: C/T

rs724159949 in LOC105372797;DYRK1A gene and Broad-based gait PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

rs724159949 in LOC105372797;DYRK1A gene and Global developmental delay PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

rs724159949 in LOC105372797;DYRK1A gene and Intrauterine retardation PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

rs724159949 in LOC105372797;DYRK1A gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 25641759 2015 DYRK1A mutations in two unrelated patients.

PMID 25920557 2015 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

rs724159949 in LOC105372797;DYRK1A gene and Microcephaly (physical finding) PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

rs724159949 in LOC105372797;DYRK1A gene and Poor school performance PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

rs724159949 in LOC105372797;DYRK1A gene and Seizures PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

rs724159949 in LOC105372797;DYRK1A gene and Severe speech delay PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

rs724159949 in LOC105372797;DYRK1A gene and Short stature PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.