611590.1.1

Oman

Splenomegaly; Failure to thrive; Nephrocalcinosis; Bilateral conductive hearing impairment

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000342.4:c.2573C>A	2		Renal Tubular Acidosis, Distal, with Hemolytic Anemia

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
611590.1.2	Oman	Failure to thrive; Rickets; Seizure	Female	Yes	Yes	Sister of 611590.1.1