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hydrolethalus syndrome
Pathology:
- lethal malformation syndrome
- hydrocephaly with absent upper midline structures of brain
Genetics:
- associated with defects in HYLS1 gene (type 1)
Clinical manifestations:
- stillbirth or death shortly after birth
- micrognathia
- polydactyly
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 236680
References
OMIM :accession 236680