208540.2

Saudi Arabia

Moderate to late preterm birth; Intrauterine growth retardation; Ventricular septal defect; Polycystic kidney dysplasia; Pulmonary hypoplasia

Female

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_153240.5:c.2694-2_2694-1del	2		Renal-Hepatic-Pancreatic Dysplasia 1

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