618316.3.1

Oman

Tetralogy of Fallot with pulmonary atresia; Abnormal facial shape; Motor delay; Delayed speech and language development

Male

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

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
618316.3.2	Oman	Abnormal facial shape; Global developmental delay; Atrial septal defect	Female		Yes	Sibling of 618316.3.1