618316.3.2

Oman

Abnormal facial shape; Global developmental delay; Atrial septal defect

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_014738.6:c.2734C>T	2		Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies

Sibling of 618316.3.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
618316.3.1	Oman	Tetralogy of Fallot with pulmonary atresia; Abnormal facial shape; Motor delay; Delayed speech and language development	Male		Yes