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Meckel syndrome, type 4
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene.
Uniprot Description A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.