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). This evidence concerns the gene SH3TC2 and X-linked disease.