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Meckel syndrome, type 1 | RareConnect | RareConnect.io

/Meckel syndrome

/polydactyly-syndactyly-triphalangism

/MKS1-related ciliopathy

/Meckel syndrome, type 1

Meckel syndrome, type 1

Rare Disease

MONDO:0009571

Also Known As

MKS1MKS1 Meckel syndromeMeckel syndrome caused by mutation in MKS1Meckel syndrome, type 1Meckel-Gruber syndrome, type 1Dysencephalia SplanchnocysticaDysencephalia splachnocysticaGruber syndromeMKSMeckel Gruber syndromeMeckel syndromeMeckel syndrome 1Meckel syndrome type1Meckel-Gruber syndromeMes

Definition

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

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:249000 ↗

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