259720.3.2

Lebanon

Anemia; Thrombocytopenia ; Increased bone mineral density; Death in childhood

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_014028.4:c.36T>A	2		Osteopetrosis, Autosomal Recessive 5

Sibling of 259720.3.1. Dizygotic female twin unaffected

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
259720.3.1	Lebanon	Hypochromic anemia; Pancytopenia ; Increased bone mineral density; Abnormal renal corticomedullary differentiation; Death in infancy		Yes	Yes	Had an affected deceased sibling