Disease association ontology term - MONDO:0014552 - lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Term summary
- ID
- MONDO:0014552
- Name
- lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
- Ontology or CV name
- Disease association
- Definition
- Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.
