206920.1.1

Country

Lebanon

HPO Terms

Anophthalmia; 2-3 finger syndactyly; Postaxial foot polydactyly; Split hand (Bilateral)
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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_015308.5:c.683C>T2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
206920.1.2LebanonMaleUnaffected father of 206920.1.1
206920.1.3LebanonFemaleUnaffected mother of 206920.1.1
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