267300.2.4

Iraq

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Female

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_012188.4:c.638G>C	1

Mother of 267300.2.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
267300.2.1	Iraq	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	Male	No	Yes
267300.2.2	Iraq		Male			Father of 267300.2.1

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