Meckel syndrome type 2(redirected from Meckel-Gruber 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.
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