259720.5

Lebanon

Hypotonia; Optic atrophy; Increased bone mineral density; Anemia; Thrombocytopenia; Cerebellar cortical atrophy; Death in infancy

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_014028.4:c.949+5G>A	2		Osteopetrosis, Autosomal Recessive 5

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
259720.6	Lebanon	Hepatosplenomegaly; Anemia; Micrognathia; High palate; Hypertelorism; Gingival overgrowth	Female		Yes