259730.4

United Arab Emirates

Failure to thrive; Metabolic acidosis; Global developmental delay; Renal tubular acidosis; Increased bone mineral density; Asthma

Female

Yes

Yes

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

Similarly affected sister

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
259730.2	United Arab Emirates	Recurrent fractures; Renal tubular acidosis; Intellectual disability; Cerebral calcification	Female	Yes	No