606003.3

United Arab Emirates

Anemia; Hepatosplenomegaly; Cardiomyopathy; Jaundice; Respiratory distress; Cutis laxa

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_006755.2:c.574C>T	2		Transaldolase Deficiency

Belongs to a tribe of Saudi Arabian origin. Distantly related to 606003.1.1