265000.3.1

Country

Lebanon

HPO Terms

Arthrogryposis multiplex congenita; Pterygium; Short stature; Kyphosis; Scoliosis; Abnormal facial shape; High palate; Arachnodactyly
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_005199.5:c.807dup2

Remarks

Proband

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
265000.3.2LebanonDecreased fetal movement; Arthrogryposis multiplex congenita; Pterygium; Short stature; Kyphosis; Scoliosis; Abnormal facial shape; High palate; Arachnodactyly; CryptorchidismMaleYesYesBrother of 265000.3.1
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