259730.2

Saudi Arabia

Recurrent fractures; Renal tubular acidosis; Intellectual disability; Cerebral calcification

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000067.3:c.232+1G>A	2	NA	Osteopetrosis, Autosomal Recessive 3

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
259730.4	Saudi Arabia	Failure to thrive; Metabolic acidosis; Global developmental delay; Renal tubular acidosis; Increased bone mineral density; Asthma	Female	Yes	Yes	Similarly affected sister