211380.1

Country

Saudi Arabia

HPO Terms

Delayed fine motor development; Intellectual disability; Delayed eruption of teeth; Synophrys; Abnormal facial shape; Bifid scrotum; Abnormality of the anus; Bilateral cryptorchidism; Hypospadias

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Sex

Male

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001797.4:c.999+1G>T	2		Elsahy-Waters Syndrome

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References

Alazami et al. 2015;
Anazi et al. 2017a