154700.2

Country

Saudi Arabia

HPO Terms

Tall stature; Aortic aneurysm; Dolichocephaly; Deeply set eye; Downslanted palpebral fissures
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Sex

Male

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000138.5:c.6872-1G>A1NA

Remarks

De novo mutation

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
154700.3Saudi ArabiaTall stature; Ectopia lentis; Myopia; Hemangioma; High, narrow palate; ArachnodactylyFemaleNoDe novo mutation
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