618316.1

United Arab Emirates

Abnormal facial shape; Abnormality of the vertebral column; Intellectual disability; Ventricular septal defect; Atrial septal defect

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_014738.5:c.810del	2		Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies