265000.6

Country

United Arab Emirates

HPO Terms

Oligohydramnios; Overlapping fingers; Rocker bottom foot; Congenital hip dislocation; Flexion contracture; Global developmental delay; Atrial septal defect; Thin corpus callosum; Generalized hypotonia; Abnormal facial shape

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Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_005199.5:c.351-9T>C	2		Multiple Pterygium Syndrome, Escobar Variant

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References

Alabdullatif et al. 2017