Condition: Broad-based gait
rs1555743003 in
ASXL3 gene and
Broad-based gait
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
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.
rs797044525 in
DYRK1A;LOC105372797 gene and
Broad-based gait
PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
rs1565930588 in
HSPB8 gene and
Broad-based gait
PMID 28501893 2017 HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.
PMID 29029362 2018 Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.
PMID 26976520 2016 Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.
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.
rs776095655 in
SLC2A1 gene and
Broad-based gait
PMID 22976442 2012 Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome.
PMID 25487684 2015 Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan.
PMID 21555602 2011 Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.
rs752298579 in
TANGO2 gene and
Broad-based gait
PMID 26805781 2016 Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.