615065.3.1

Country

United Arab Emirates

HPO Terms

Plagiocephaly; Abnormal facial shape; Webbed neck; Camptodactyly; Limited elbow extension; Limited knee flexion; Abnormality of the calf musculature; Scoliosis; Cryptorchidism
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Sex

Male

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_004826.4:c.1184+1G>T2NA

Remarks

Proband

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
615065.3.2United Arab EmiratesMaleNoFather of 615065.3.1
615065.3.3United Arab EmiratesFemaleNoMother of 615065.3.1
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