267300.2.1

Country

Iraq

HPO Terms

Postnatal growth retardation; Rickets; Hyperchloremic metabolic acidosis; Hyperkalemic metabolic acidosis; Abnormal urine pH; Nephrocalcinosis; Failure to thrive; Multiple small medullary renal cysts; Profound sensorineural hearing impairment; Enlarged vestibular aqueduct

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Sex

Male

Family History

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_012188.4:c.638G>C	2		Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness

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References

Enerbäck et al. 2018

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
267300.2.2	Iraq		Male			Father of 267300.2.1
267300.2.4	Iraq		Female			Mother of 267300.2.1