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lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description 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.
Uniprot Description A form of Meckel syndrome, a disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.
Mondo Term and Equivalent IDs
MONDO:0014552:  lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Orphanet:439897: 
UMLS:C4015701: