Hydrolethalus syndrome
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| Hydrolethalus syndrome | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| OMIM | 236680 |
| DiseasesDB | 34380 |
| Patient UK | Hydrolethalus syndrome |
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.[1]
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
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