has material basis in germline mutation in disease has major feature KIF14 congenital nervous system disorder lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome https://www.malacards.org/card/meckel_syndrome_12 UMLS:C4015701 Orphanet:439897 Meckel syndrome type 12 Meckel syndrome 12 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. OMIM:616258 MKS12 GARD:0017743 MEDGEN:864138 MONDO:0014552 arthrogryposis multiplex congenita Meckel syndrome central nervous system malformation hereditary neurological disease