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, BPTF is linked to X-linked disease.