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MIRAGE
Meckel syndrome 13

Summary
Definition
A Meckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13 and that is characterized by occipital encephalocele, polydactyly, polycystic kidneys, micrognathia, contractures, and perinatal lethality.
Super Class
Meckel syndrome autosomal recessive disease
Disease Ontology
DOID:0080253
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
84314 TMEM107 transmembrane protein 107
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q6UX40 Transmembrane protein 107
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 6, 2026