| Definition | Protein which, if defective, causes Meckel syndrome, an autosomal recessive disorder characterized by a combination of renal cysts and variably associated features, including developmental anomalies of the central nervous system (usually occipital encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. |
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| Synonyms |
Dysencephalia splanchnocystica
Gruber syndrome
Meckel-Gruber syndrome
MKS
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| Category |
› Disease
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| Graphical |
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