lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
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 ]
Term info
- Orphanet:439897 (MONDO:equivalentTo)
- OMIM:616258 (Orphanet:439897/e)
- UMLS:C4015701 (MONDO:ncbi_mim2gene_medline)
ordo_malformation_syndrome
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.
http://purl.obolibrary.org/obo/Orphanet_439897, http://linkedlifedata.com/resource/umls/id/C4015701, https://omim.org/entry/616258
Meckel syndrome type 12
MKS12, Meckel syndrome 12
MONDO:0014552