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Meckel syndrome, type 1

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene.

Synonyms

  • Dysencephalia Splanchnocystica
  • Dysencephalia splachnocystica
  • Gruber syndrome
  • MKS
  • MKS1
  • MKS1 Meckel syndrome
  • Meckel Gruber syndrome
  • Meckel syndrome
  • Meckel syndrome 1
  • Meckel syndrome caused by mutation in MKS1
  • Meckel syndrome type1
  • Meckel syndrome, type 1
  • Meckel-Gruber syndrome
  • Meckel-Gruber syndrome, type 1
  • Mes
OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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