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HEC syndrome

Disease Summary
Associated Targets (0)

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Mondo Description HEC syndrome is characterised by communicating hydrocephalus, endocardial fibroelastosis (EFE), and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The aetiology of the syndrome is unknown but a viral or genetic origin has been proposed.
Mondo Term and Equivalent IDs
MONDO:0010901:  HEC syndrome
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
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