lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Go to external page http://purl.obolibrary.org/obo/MONDO_0014552
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. [ Orphanet:439897 ]
Synonyms: Meckel syndrome type 12
Term information
- MEDGEN:864138 (MONDO:equivalentTo)
- OMIM:616258 (Orphanet:439897/e)
- GARD:17743 (MONDO:GARD)
- Orphanet:439897 (MONDO:equivalentTo)
- UMLS:C4015701 (MONDO:equivalentTo)
gard_rare, ordo_disorder, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare
http://www.orpha.net/ORDO/Orphanet_439897
http://identifiers.org/medgen/864138
http://linkedlifedata.com/resource/umls/id/C4015701
https://omim.org/entry/616258