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267300.2.1
Home
Subject Details
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
No
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
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