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.