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235510.3
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Subject Details
Country
Oman
HPO Terms
Global developmental delay; Abnormal facial shape; Lymphedema; Intestinal lymphangiectasia; Decreased response to growth hormone stimulation test; Hypothyroidism
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Sex
Male
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_133459.4:c.223T>A
2
Hennekam Lymphangiectasia-Lymphedema Syndrome
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References
Alders et al. 2013
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