We found variants in 9 genes associated with autosomal dominant conditions (COL12A1, NIPBL, TUBB4A, SYNE1, ARIDG, BPTF, STXBP1, ZSWIM6, GJB2), 13 genes linked to autosomal recessive disorders (VARS, CNTNAP1, COL6A1, NEB, AK9, CHRNA1, ATN1, SLC37A4, PLEC, SH3TC2, MCM3AP, FUK, COL12A1), and 6 genes related to X-linked diseases (OCRL, ATRX, OFD1, ACSL4, PRS6KA3, DMD). Here, VARS1 is linked to X-linked disease.