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Table 1 Clinical features of 66 probands in which RYR1 mutation analysis was performed

From: Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome

Family number Phenotype Ethnicity Consang.
MPS001 LMPS White Y
MPS002 LMPS South Asian Y
MPS003 LMPS Middle Eastern Y
MPS004 LMPS South Asian Y
MPS005 LMPS South Asian Y
MPS006 LMPS South Asian Y
MPS007 LMPS Not available N
MPS008 LMPS White N
MPS009 LMPS White N
MPS010 FADS Middle Eastern Y
MPS011 LMPS Not recorded Y
MPS012 LMPS North African Y
MPS013 LMPS White N
MPS014 LMPS South Asian Y
MPS015 LMPS White N
MPS016 LMPS Not available Y
MPS017 LMPS North African Y
MPS018 FADS White N
MPS019 LMPS White N
MPS020 LMPS White N
MPS021 LMPS South Asian Y
MPS022 FADS Middle Eastern Y
MPS023 LMPS Middle Eastern Y
MPS024 LMPS White N
MPS025 FADS Mixed race N
MPS026 FADS White N
MPS027 LMPS Not available Y
MPS028 LMPS Not available N
MPS029 FADS/LMPS Not available N
MPS030 FADS/LMPS Not available N
MPS031 LMPS White N
MPS032 LMPS White N
MPS033 LMPS White N
MPS034 EVMPS Not available Y
MPS035 EVMPS South Asian Y
MPS036 EVMPS White N
MPS037 EVMPS Not available N
MPS038 EVMPS White N
MPS039 EVMPS White N
MPS040 EVMPS White N
MPS041 EVMPS White N
MPS042 EVMPS White N
MPS043 EVMPS South Asian N
MPS044 EVMPS South American N
MPS045 EVMPS South Asian Y
MPS046 EVMPS South Asian Y
MPS047 EVMPS White N
MPS048 EVMPS African Y
MPS049 EVMPS Not available N
MPS050 EVMPS White N
MPS051 EVMPS White N
MPS052 EVMPS White N
MPS053 EVMPS White Y
MPS054 EVMPS White N
MPS055 EVMPS White N
MPS056 EVMPS White N
MPS057 EVMPS South American N
MPS058 EVMPS White N
MPS059 EVMPS African N
MPS060 EVMPS White N
MPS061 EVMPS White N
MPS062 EVMPS White N
MPS063 EVMPS White N
MPS064 LMPS Middle Eastern ?
MPS065 LMPS White N
MPS066 LMPS North African Y
  1. Clinical phenotype (FADS = Foetal Akinesia Deformation Sequence, LMPS = Lethal Multiple Pterygium Syndrome; EVMPS = Escobar Variant Multiple Pterygium Syndrome), ethnic origin and presence of parental consanguinity is recorded).