Table 1: DNA mutations of the patient.
| Gene | DNA mutation | Amino acid mutation | Genetic background | Heterozygosis/Homozygous | Inheritance mode | Protein structure prediction |
| SERPINA10 | c.473A > T | p.L158Q | Maternal | Heterozygosis | AD | Impairment |
| TGFBR2 | c.944C > T | p.T315M | Paternal | Heterozygosis | AD | Impairment |
| VIPAS39 | c.1274C > A | p.R425L | Maternal | Heterozygosis | AR | Impairment |
| NODAL | c.607C > T | p.E203K | Paternal | Heterozygosis | AD | Impairment |
| ATL3 | c.713A > C | p.V238G | Paternal | Heterozygosis | AD | Impairment |
| BRCA2 | c.5785A > G | p.I1929V | Paternal | Heterozygosis | AD | Impairment |
| JAG1 | c.133C > A | p.V45L | Paternal | Heterozygosis | AD | Impairment |
| LAMA2 | c.6206A > G | p.Y2069C | Paternal | Heterozygosis | AR | Impairment |
| ANKRD26 | c.4487A > T | p.V1496D | Maternal | Heterozygosis | AD | Impairment |
| ATXN2 | IVS5-3G > A | Paternal | Heterozygosis | AD | ||
| ABCG5 | c.1528G > T | p.H510N | Maternal | Heterozygosis | AR | Impairment |
| HMGCL | c.348C > T | p.A116A | Maternal | Heterozygosis | AR | Impairment |
| TTN | c.16757C > T | p.C5586Y | Paternal | Heterozygosis | AD | Impairment |
| SYNE1 | c.13511C > A | p.C4504F | Maternal | Heterozygosis | AD | Impairment |
| COLQ | c.1228G > A | p.R410W | de novo | Heterozygosis | AR | Impairment |
| FGFR2 | c.755G > C | p.S252W | de novo | Heterozygosis | AD | Impairment |
| KANSL1 | c.271G > A | p.P91S | de novo | Heterozygosis | AD | Innocuous |
| c.584C > A | p.G195V | de novo | Heterozygosis | AD |