265000.1.1

Country

Saudi Arabia

HPO Terms

Multiple pterygia; Ptosis; Downslanted palpebral fissures; Mask-like facies; Rocker bottom foot; Fused thoracic vertebrae; Diaphragmatic eventration
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_005199.5:c.320T>G2

Remarks

Proband. He also had two affected siblings that died as neonates- a sister at 3 months due to congenital heart disease and a brother at 3 days due to lung hypoplasia.

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
265000.1.2Saudi ArabiaMultiple pterygia;MaleYesYesDouble first cousin of 265000.1.1
265000.1.3Saudi ArabiaMultiple pterygia;MaleYesYesDouble first cousin of 265000.1.1, twin brother of 265000.1.2
265000.1.4Saudi ArabiaMultiple pterygia;MaleYesYesDouble first cousin of 265000.1.1
265000.1.5Saudi ArabiaMultiple pterygia;MaleYesYesDouble first cousin of 265000.1.1, brother of 265000.1.4
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