259720.1.1

Kuwait

Osteopetrosis; Autosomal recessive inheritance; Hepatosplenomegaly; Thrombocytopenia; Neurodegeneration

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 an affected deceased sibling

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
259720.1.2	Kuwait		Female			Mother of 259720.1.1
259720.1.3	Kuwait		Male			Father of 259720.1.1