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208540.2
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Subject Details
Country
Saudi Arabia
HPO Terms
Moderate to late preterm birth; Intrauterine growth retardation; Ventricular septal defect; Polycystic kidney dysplasia; Pulmonary hypoplasia
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Sex
Female
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_153240.5:c.2694-2_2694-1del
2
Renal-Hepatic-Pancreatic Dysplasia 1
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References
Monies et al. 2019
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
208540.1
Saudi Arabia
Abnormality of the kidney; Multiple renal cysts; Hepatic cysts; Pulmonary hypoplasia
Male
No
No
208540.3
Saudi Arabia
Polycystic kidney dysplasia; Pulmonary hypoplasia
Female
Yes
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