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
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000932.4:c.2632G>T2

Remarks

Cousin of 618961.1.1

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
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