Meckel syndrome type 2

Meckel syndrome type 2

An 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.
Molecular pathology
Caused by defects TMEM216, which encodes a transmembrane domain-containing protein required for tissue-specific ciliogenesis.