618961.1.1

Country

United Arab Emirates

HPO Terms

Spondylometaphyseal dysplasia; Narrow chest; Hypertelorism; Proptosis; Depressed nasal bridge; Short nose; Corneal opacity; Patent ductus arteriosus; Global developmental delay; Pulmonary hypoplasia

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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000932.4:c.2632G>T	2		Spondylometaphyseal Dysplasia With Corneal Dystrophy

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References

Ben-Salem et al. 2018

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
618961.1.2	United Arab Emirates	Spondylometaphyseal dysplasia; Narrow chest; Hypertelorism; Proptosis; Depressed nasal bridge; Short nose; Corneal opacity; Patent ductus arteriosus; Choroid plexus cyst; Laryngomalacia; Death in infancy	Male	Yes	Yes	Cousin of 618961.1.1