259720.4

Kuwait

Osteopetrosis; Cerebral atrophy; Optic disc pallor; Hepatosplenomegaly;

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_014028.4:c.415_416del	2		Osteopetrosis, Autosomal Recessive 5

Had three similarly affected deceased siblings