236750.1.3

Country

United Arab Emirates

HPO Terms

Pleural effusion; Ascites; Hydrocele testis; Hemangioma; Prominent forehead; Depressed nasal bridge; Hypertelorism; Smooth philtrum
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_018676.3:c.1322_1329del2

Remarks

Cousin of 236750.1.1 (patient 'IV.9' in the publication)

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
236750.1.1United Arab EmiratesPleural effusion; Ascites; Hemangioma; Patent foramen ovale; Atrial septal defect; Mitral regurgitationFemaleYesYesProband (patient 'IV.4' in the publication)
236750.1.2United Arab EmiratesPleural effusion; Ascites; Hydrocele testis; Hemangioma; Patent foramen ovale; Mitral regurgitationMaleYesYesBrother of 236750.1.1 (patient 'IV.6' in the publication)
236750.1.4United Arab EmiratesAscites; Hydrocele testis; Hemangioma; Patent ductus arteriosus; Atrial septal defect; Prominent forehead; Depressed nasal bridge; Hypertelorism; Smooth philtrumMaleYesYesCousin of 236750.1.1 (patient 'IV.10' in the publication)
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