610443.2

Country

United Arab Emirates

HPO Terms

Intrauterine growth retardation; Cryptorchidism; Hydronephrosis; Dandy-Walker malformation; Short stature; Decreased body weight; Atrial septal defect; Ventricular septal defect; Recurrent lower respiratory tract infections; Thoracic scoliosis; Global developmental delay; Abnormal facial shape
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Sex

Male

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NC_000017.11:g.42875129_43570427dup1
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