ID
Phenotype by ultrasound
Reference sequence
Sequencing results by clinical WES
Genetic subregion
Heterogeneity
Chromosomal Loci
Mutation type
Variant type(ACMG evidence levels)
Sanger verification
Sanger verification
Paternal Maternal
6 Poor skull development, nasal bones not shown, poor ossification of the lumbar vertebral body of the spine, poor ossification of the sacral caudal vertebral arch and vertebral body NM_001024630.3 RUNX2:c.931_946del(p.T311fs) Exon7 Het chr6:45480054-45480069 Pathogenic PVS1++PS2+PM2 Wild Wild
11
Fetal nasal and jaw abnormalities
NM_000047.2
ARSE:c.331C>T(p.R111C)
Exon5
Hemi
chrX:2871283-2871283
Likely pathogenic
PM1+PM2+PM5+PP3
Wild
Het
17 FL<-3.9SD,HL<-4.3SD; uneven ossification of some vertebral bodies NM_001844.4 COL2A1:c.1420-2A>G Intron22 Het chr12:48380228-48380228 Pathogenic PVS1+PS2+PM2+ PP3 Wild Wild
25 HL<-2.6SD,HC<-2.8SD NM_004247.3 EFTUD2:c.1705C>T(p.R569X) Exon17 Het chr17:42937814-42937814 Pathogenic PVS1+PS2+PM1+PM2+ PP3 Wild Wild
28
Short limb development
NM_001844.4
COL2A1:c.1924G>A(p.G642R)
Exon29
Het
chr12:48377887-48377887
Likely pathogenic
PS2+PM2 +PP3+PP4
Wild
Wild
45 FL<-2.0SD,HL<-2.0SD, nose bones not shown NM_001024630 .3 RUNX2:c.568C>T(p.R190W) Exon9 Het chr6:45399744-45399744 Pathogenic PS1+PS2+PM1+PM2+ PP3 Wild Wild
49 Bilateral foot varus,cervical thoracic spine bends backward NM_000334.4 SCN4A:c.4361G>A(p.R1454Q) Exon24 Het chr17:62019281-62019281 Likely pathogenic PM1+PM2+PM5+PP3 Het Wild
NM_000334.4 SCN4A:c.481G>A(p.E161K) Exon3 Het chr17:62049497-62049497 Likely pathogenic PM1+PM2+PM3+PP3 Wild Het
50 FL<-3.0SD, The femur is slightly curved and the long bone is dysplastic NM_000089.3 COL1A2:c.2261G>T(p.G754V) Exon37 Het chr7:94049926-94049926 Pathogenic PS1+PS2+PM2 +PP3 Wild Wild
67
HC<-2.0SD,HL<-8.0SD,FL<-5.0SD;Abnormal ossification of both humerus and femur, poor ossification of cervical vertebra
NM_000288.3
PEX7:c.283T>G(p.W95G)
Exon3
Het
chr6:137147551-137147551
Likely Pathogenic
PM1+PM2+PM3+PP3
Het
Wild
NM_000288.3
PEX7 :c.408dup(p.V137Cfs*16)
Exon4
Het
chr6:137166820-137166820
Likely Pathogenic
PVS1+PM2
Wild
Het
76 Bilateral foot varus,Abnormal hand posture, NM_001271208.1 NEB:c.1569+5G>A Exon17 Het chr2:152553146-152553146 VUS PM2+PM3+PP3 Het Wild
NM_001271208.1
NEB:c.2278C>T(p.Q760*)
Exon24
Het
chr2:152547273-152547273
Likely Pathogenic
PVS1+PM2
Wild
Het
77 Fingers merge, toes merge, temporal depression,.Pregnant women also have finger merge and toe merge NM_000141.4 FGFR2:c.755C>G(p.S252W) Exon7 Het chr10:123279677-123279677 Pathogenic PM6_VeryStrong+PS3+PM2+PP3 Wild Het