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Table 1 Summary of the clinical features of the affected individuals within each family, not described previously

From: Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

ID Consang Case Age at presentation Delivery Age (Age at death) Birth weight (g) Fetal akinesia/hypokinesia Arthrogryposis Fractures Hydrops Polyhydramnios Spontaneous movements at birth Facial movement Orogastric Tube Motor Milestones Respiratory Insufficiency
16 yes II:1 birth C/S (35wg) 7w 1,660 yes AMC yes no yes absent no yes none yes
20 yes II:VI birth C/S (37wg) (<1w) NI NI NI NI NI NI NI NI NI n/r NI
14 no II:2 birth C/S 5 m 3,196 yes no no no no hypotonic yes yes delayed yes
6 yes II:1 birth C/S (30wg) (3w) 1,345 NI AMC no NI NI absent yes no n/r yes
II:3 32wg C/S (36wg) (4w) 2,345 yes AMC no yes yes absent yes no n/r yes
8 no II:1 25wg in utero demise (26wg) NI yes AMC no yes NI n/r yes n/r n/r n/r
II:3 29wg in utero demise (29wg) 970 yes AMC no no yes n/r no n/r n/r n/r
13 no II:2 birth C/S (38wg) 59/12y 3, 200 yes no yes no no hypotonic yes no delayed no
9 yes II:1 19 wg TOP (19wg) n/r NI NI AMC no yes NI n/r NI n/r n/r n/r
II:2 16wg TOP (16wg) n/r 98 yes AMC no yes yes n/r yes n/r n/r n/r
II:3 16wg TOP (16wg) n/r 95 yes AMC no yes yes n/r yes n/r n/r n/r
10 no II:1 20 wg C/S (37wg) (4w) 2,820 yes AMC no no yes hypotonic yes yes n/a yes
II:2 16wga TOP (17wg) n/r n/r no AMC no no NI n/r NI n/r n/r n/r
15 no II:2 NI NI 8y NI NI DA no NI NI normal no no normal no
1 no II:2 birth C/S 4y 3504 yes DA2A no no no normal yes yes delayed no
11 no I:2 birth C/S NI NI no DA2B no no no yes no no NI no
   II:1 antenatal C/S NI 3,410 no DA2B no no no yes no no normal no
  1. C/S caesaeran section, TOP termination of pregnancy, wg weeks gestation, NI no information, n/r not relevant, a prenatal diagnosis