Table 1.

Pathogenic genes of DD‐I

Gene name and location	Mutant position	cDNA	Mutant type	Reference
SMOC2 (NM_022138, 6q27)	Intron 1	c.84 + 1G>T	Splice mutation	Bloch‐Zupan et al. (2011)
VPS4B (NM_004869.3, 18q21.33)	Intron 7	IVS7 + 46C>G	Splice mutation	Yang et al. (2016)
SSUH2 (NM_015931.2, 3p26.1)	Exon 2	c.353C>A	Missense mutation	Xiong et al. (2017)