HBRF

267300.1.4

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Country

United Arab Emirates
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Sex

Female

Subject Variants

Variant Name Allele Count Allele Frequency Associated Disease Associated Gene
NM_012188.4:c.436C>T 1
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Remarks

Mother of 267300.1.1

References

Related Subjects

Subject Id Country HPO Terms Sex Family History Parental Consanguinity Remarks
267300.1.1 United Arab Emirates Postnatal growth retardation; Rickets; Hyperchloremic metabolic acidosis; Hyperkalemic metabolic acidosis; Abnormal urine pH; Nephrocalcinosis; Multiple small medullary renal cysts; Failure to thrive; Profound sensorineural hearing impairment; Enlarged vestibular aqueduct Male Yes Yes Proband
267300.1.2 United Arab Emirates Postnatal growth retardation; Rickets; Hyperchloremic metabolic acidosis; Hyperkalemic metabolic acidosis; Abnormal urine pH; Nephrocalcinosis; Failure to thrive; Profound sensorineural hearing impairment; Enlarged vestibular aqueduct Female Yes Yes Sister of 267300.1.1
267300.1.3 United Arab Emirates Male Father of 267300.1.1
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© CAGS 2024. All rights reserved.