Wolman disease presenting with hemophagocytic lymphohistiocytosis syndrome and a novel LIPA gene variant: a case report and review of the literature

Table 2 Features of the likely pathogenic variant found in our patient with Wolman disease presenting with HLH

	Gene	Zygosity	Variant	Inheritance	Outcome	MAF	OMIM	dbSNPrsID
Affected child	LIPA	Homozygous	G118D	AR	Likely pathogenic	< 0.01	613,497	–
Father	LIPA	Heterozygous	G118D
Mother	LIPA	Heterozygous	G118D

ISSN: 1752-1947