Saudi Arabia

HPO Terms

Non-obstructive azoospermia

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
219700.74Saudi ArabiaPancytopenia; Cirrhosis; Bronchiectasis; Splenomegaly; Growth delay; Intellectual disabilityMaleYesYes
219700.75Saudi ArabiaDiarrhea; Recurrent respiratory infections; Elevated sweat chloride; Exocrine pancreatic insufficiencyMaleYesYesMother's cousin affected with cystic fibrosis
219700.76Saudi ArabiaConstipation; Wheezing; Diarrhea; Elevated sweat chloride; Rectal prolapse; Intestinal obstructionMaleYesPatient had milder form of cystic fibrosis
219700.78Saudi ArabiaNoncommunicating hydrocephalus; Scoliosis; Bronchiectasis; Abnormal facial shape; Ventricular septal defect; Elevated sweat chloride; Failure to thriveFemaleYesYesEmirati of Yemeni origin
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