201000.1.1

Country

United Arab Emirates

HPO Terms

Abnormality of head or neck; Brachydactyly; Cutaneous syndactyly; Preaxial foot polydactyly; Mild global developmental delay
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_016277.4:c.482-1G>A2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
201000.1.2United Arab EmiratesAbnormality of head or neck; Cloverleaf skull; Brachydactyly; Cutaneous syndactyly; Preaxial foot polydactylyFemaleYesYesSister of 201000.1.1
201000.1.3United Arab EmiratesMaleYesNoUnaffected father of 201000.1.1
201000.1.4United Arab EmiratesFemaleYesNoUnaffected mother of 201000.1.1
201000.1.5United Arab EmiratesMaleYesNoUnaffected brother of 201000.1.1
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