130650.2

Country

United Arab Emirates

HPO Terms

Generalized hypotonia; Global developmental delay; Hydrocephalus; Aqueductal stenosis; Hypospadias; Cryptorchidism; Atrial septal defect; Ventricular septal defect ; Abnormal facial shape

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Sex

Male

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NC_000011.11:g.196966_30453791dup	1		Beckwith-Wiedemann Syndrome

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References

Alabdullatif et al. 2017