Table 4. Detected variants in HOXD13 and CHD7.

Patient	Detected variant	Inheritance	Clinical significance
V4	HOXD13	paternal	likely benign
	c.183_191del
	p.Ala182_Ala184del
V15	CHD7	de novo	pathogenic
	c.3202-1 G>C
V7	CHD7	na	likely benign
	c.3202-5 T>C

Variants detected after DNA sequencing of HOXD13 and CHD7.