Meckel syndrome type 3
Meckel syndrome type 3An autosomal recessive disorder (OMIM:607361) characterised by renal cysts and variably associated features, including developmental anomalies of the CNS (typically encephalocele, hepatic duct dysplasia and cysts) and polydactyly.
Caused by defects TMEM67, which encodes meckelin, a key ciliary protein.
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