Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Early severe fetal akinesia sequence
0.100 CausalMutation phenotype CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123 2020
Early severe fetal akinesia sequence
0.100 CausalMutation phenotype CLINVAR Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. 27974811 2017