235510.1

Country

Iraq

HPO Terms

Global developmental delay; Growth delay; Flat face; Hypertelorism; Depressed nasal bridge; Lymphedema; Lymphangiectasis; Intestinal lymphangiectasia; Pericardial lymphangiectasia; Hemangioma

Back to search Result

Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_133459.4:c.979G>C	2		Hennekam Lymphangiectasia-Lymphedema Syndrome

Download Table

References

Alders et al. 2009