265000.2.1

Country

Oman

HPO Terms

Weakness of facial musculature; Respiratory distress; 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 Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_005199.5:c.13C>T	2		Multiple Pterygium Syndrome, Escobar Variant

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Remarks

Proband

References

Rajab et al. 2005;
Hoffmann et al. 2006

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
265000.2.2	Oman	Weakness of facial musculature; Respiratory distress; Arthrogryposis multiplex congenita; Pterygium; Short stature; Kyphosis; Scoliosis; Abnormal facial shape; High palate; Arachnodactyly; Cryptorchidism	Male	Yes	Yes	Brother of 265000.2.1