267300.1.1

Country

United Arab Emirates

HPO Terms

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

Remarks

Proband
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Related Subjects

Subject Id Country HPO Terms Sex Family History Parental Consanguinity Remarks
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
267300.1.4 United Arab Emirates Female Mother of 267300.1.1
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