259720.2

Kuwait

Osteopetrosis; Autosomal recessive inheritance; Anemia; Thrombocytopenia; Optic atrophy; Microcephaly; Retinal dystrophy

Male

Yes

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