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lethal hydranencephaly-diaphragmatic hernia syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated.
Mondo Term and Equivalent IDs
MONDO:0018810:  lethal hydranencephaly-diaphragmatic hernia syndrome
Orphanet:480528: 
UMLS:CN776878: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found