208540.3

Country

Saudi Arabia

HPO Terms

Polycystic kidney dysplasia; Pulmonary hypoplasia
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Sex

Female

Family History

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_153240.5:c.2694-2_2694-1del2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
208540.1Saudi ArabiaAbnormality of the kidney; Multiple renal cysts; Hepatic cysts; Pulmonary hypoplasiaMaleNoNo
208540.2Saudi ArabiaModerate to late preterm birth; Intrauterine growth retardation; Ventricular septal defect; Polycystic kidney dysplasia; Pulmonary hypoplasiaFemale
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