Meckel syndrome type 2
Meckel syndrome type 2An autosomal recessive disorder OMIM:603194 characterised by renal cysts and variably associated features, including developmental anomalies of the CNS (e.g., encephalocele, hepatic duct dysplasia and cysts) and polydactyly.
Caused by defects TMEM216, which encodes a transmembrane domain-containing protein required for tissue-specific ciliogenesis.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.