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Keyword - Meckel syndrome (KW-0981)

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Broader

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.

Synonyms

  • Dysencephalia splanchnocystica
  • Gruber syndrome
  • Meckel-Gruber syndrome
  • MKS

Category

Disease

Graphical

CiliopathyMeckel syndromeDisease

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