235510.2

Country

Oman

HPO Terms

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

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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_133459.4:c.305G>C	2		Hennekam Lymphangiectasia-Lymphedema Syndrome

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References

Al-Gazali et al. 2003;
Alders et al. 2009