Table 2 Genes re-analyzed by sequencing

Weaver, Sotos, and Banayan-Ruvalcaba syndromes a

EZH2, NSD1, NFIX, APC2, PIK3CA, KLLN, PTEN, AKT1, SEC23B

Neurofibromatosis

NF1, NF2, SMARCB1, SPRED1

Congenital glycosylation disease

ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6V0A2, B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8, DDOST, DHDDS, DOLK, DPM1, DPM2, DPM3, GMPPA, GNE, LARGE, MAN1B1, MGAT2, MOGS, MPDU1, MPI, NGLY1, PGM1, PMM2, RFT1, SLC35A1, SLC35A2, SLC35C1, SRD5A3, SSR4, STT3A, STT3B, TMEM165, TUSC3