265000.5.2

Country

Lebanon

HPO Terms

Decreased fetal movement; Weakness of facial musculature; Arthrogryposis multiplex congenita; Pterygium; Short stature; 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.715C>T	2		Multiple Pterygium Syndrome, Escobar Variant

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Remarks

Sister of 265000.5.1

References

Hoffmann et al. 2006

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
265000.5.1	Lebanon	Neonatal death; Arthrogryposis multiplex congenita; Pterygium; Short stature; Abnormal facial shape; High palate; Arachnodactyly	Female	Yes	Yes	Proband