lethal fetal cerebrorenogenitourinary agenesis/hypoplasia 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.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015168
arthrogryposis multiplex congenita
is_a
MONDO:0018921
Meckel syndrome
is_a
MONDO:0020022
central nervous system malformation
is_a
MONDO:0100545
hereditary neurological disease
is_a
MKS12
related
Meckel syndrome 12
related
Meckel syndrome type 12
exact
SPAC144.14