259700.2

Lebanon

Hepatosplenomegaly; Increased bone mineral density; Thin ribs; Pathologic fracture

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_006019.3:c.702del	2	0.13	Osteopetrosis, Autosomal Recessive 1

Has an older affected sister (deceased). Also, eight nephews and nieces from both parents' sides, who died most likely from same pathology