Condition: Arthrogryposis
rs886041709
in
ASPM
gene and
Arthrogryposis
PMID 31680123
2020 The genomic and clinical landscape of fetal akinesia.
rs1558005340
in
ATP1A2
gene and
Arthrogryposis
PMID 30690204
2020 Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.
rs552094593
in
GBE1
gene and
Arthrogryposis
PMID 31680123
2020 The genomic and clinical landscape of fetal akinesia.
rs750803388
in
GLDN
gene and
Arthrogryposis
PMID 31680123
2020 The genomic and clinical landscape of fetal akinesia.
rs1568069621
in
PIEZO2
gene and
Arthrogryposis
PMID 31680123
2020 The genomic and clinical landscape of fetal akinesia.
PMID 27974811
2017 Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects.
rs375218091
in
RAPSN
gene and
Arthrogryposis
PMID 31680123
2020 The genomic and clinical landscape of fetal akinesia.
rs117134265
in
ROR2
gene and
Arthrogryposis
PMID 31680123
2020 The genomic and clinical landscape of fetal akinesia.
rs200546266
in
RYR1
gene and
Arthrogryposis
PMID 31680123
2020 The genomic and clinical landscape of fetal akinesia.
rs786205271
in
SCN5A
gene and
Arthrogryposis
PMID 31680123
2020 The genomic and clinical landscape of fetal akinesia.
rs267607038
in
SETBP1
gene and
Arthrogryposis
PMID 31680123
2020 The genomic and clinical landscape of fetal akinesia.