Table 4.

Comparison of genetic characteristics between patients clinically diagnosed as SLDP and IHH.

	Final clinical diagnosis
	SLDP (%)	IHH (%)
Patient with variant identified
Yes	6 (24.0)	9 (42.9)
No	19 (76.0)	12 (57.1)
Variants from gene list
SLDP only	1 (14.2)	0 (0.0)
SLDP and IHH	2 (42.9)	6 (66.7)
IHH only	3 (42.9)	3 (33.3)
Zygosity of the variants
Heterozygous	6 (100.0)	5 (55.6)
Homozygous	0 (0.0)	4 (44.4)
Variant category (n = 20 alleles)
Predicted to affect protein structure/expression (nonsense, splice site, promoter)	1 (16.7)	5 (38.5)
Predicted not to affect protein structure/expression (missense, in-frame variant)	5 (83.3)	8 (61.5)