present in Gene: DYRK1A
present in Chromosome: 21
Position on Chromosome: 37478285
Alleles of this Variant: C/A;G;T
rs797044519 in
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.
rs797044519 in
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.
rs797044519 in
DYRK1A gene and
Intrauterine retardation
PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
rs797044519 in
DYRK1A gene and
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
rs797044519 in
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.
rs797044519 in
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.
rs797044519 in
DYRK1A gene and
Seizures
PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
rs797044519 in
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.
rs797044519 in
DYRK1A gene and
Short stature
PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.