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

This is just here as a test because I lose it

Term information

database cross reference
Subsets

gard_rare, ordo_disorder, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

exactMatch

http://www.orpha.net/ORDO/Orphanet_439897

http://identifiers.org/medgen/864138

http://linkedlifedata.com/resource/umls/id/C4015701

https://omim.org/entry/616258

has related synonym

MKS12

Meckel syndrome 12

id

MONDO:0014552