Samiksha Jaiswal (Editor)

Hydrolethalus syndrome

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Covid-19
OMIM  236680
DiseasesDB  34380

Hydrolethalus syndrome (less commonly referred to as Salonen-Herva-Norio syndrome) is a rare genetic disorder that causes improper fetal development, resulting in birth defects and often stillbirth.

It is associated with HYLS1 mutations.

Symptoms

Hydrolethalus syndrome can cause heart and brain defects, a cleft lip or palate, an abnormally shaped nose or jaw, or incomplete lung development. These defects are typically serious enough to cause stillbirth or death within a few days of birth.

References

Hydrolethalus syndrome Wikipedia


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