Table 2.

Whole exome sequence analysis.

Gene	Disease	Mode of inheritance	Variant	Coding DNA	Inherited form	Classification	Reference
NEU1	NEU1-related disorder	Autosomal recessive	p.S182G	c.544 A < G	Mother	Likely pathogenic variant	NM_000434.3
NEU1	NEU1-related disorder	Autosomal recessive	p.G227R	c.679 G > A	Father	Likely pathogenic variant	NM_000434.3