265000.2.2

Country

Oman

HPO Terms

Weakness of facial musculature; Respiratory distress; Arthrogryposis multiplex congenita; Pterygium; Short stature; Kyphosis; Scoliosis; Abnormal facial shape; High palate; Arachnodactyly; Cryptorchidism
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_005199.5:c.13C>T2

Remarks

Brother of 265000.2.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
265000.2.1OmanWeakness of facial musculature; Respiratory distress; Arthrogryposis multiplex congenita; Pterygium; Short stature; Kyphosis; Scoliosis; Abnormal facial shape; High palate; ArachnodactylyFemaleYesYesProband
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