618961.1.2

Country

United Arab Emirates

HPO Terms

Spondylometaphyseal dysplasia; Narrow chest; Hypertelorism; Proptosis; Depressed nasal bridge; Short nose; Corneal opacity; Patent ductus arteriosus; Choroid plexus cyst; Laryngomalacia; Death in infancy

Remarks

Cousin of 618961.1.1
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
618961.1.1United Arab EmiratesSpondylometaphyseal dysplasia; Narrow chest; Hypertelorism; Proptosis; Depressed nasal bridge; Short nose; Corneal opacity; Patent ductus arteriosus; Global developmental delay; Pulmonary hypoplasiaMaleYesYes
618961.1.GUnited Arab Emirates8 unaffected relatives of 618961.1.1 (parents and sibling of 618961.1.1 + parents and siblings of 618961.1.2)
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