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MIRAGE
Joubert syndrome 16

Summary
Synonym
  • JBTS16
Definition
A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q.
Super Class
Joubert syndrome
Disease Ontology
DOID:0110985
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
51524 TMEM138 transmembrane protein 138
Displaying 1 entry
Gene ID Gene Symbol Description Source
72982 Tmem138 transmembrane protein 138
Displaying 1 entry
Gene ID Gene Symbol Description Source
361728 Tmem138 transmembrane protein 138
Displaying 1 entry
Gene ID Gene Symbol Description Source
100332440 tmem138 transmembrane protein 138
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
493444 tmem138 transmembrane protein 138 Xenopus tropicalis (tropical clawed frog)
The Human Phenotype Ontology
Displaying entries 1 - 10 of 37 in total
HPO ID HPO Term
HP:0000202 Orofacial cleft
HP:0000238 Hydrocephalus
HP:0000276 Long face
HP:0000369 Low-set ears
HP:0000426 Prominent nasal bridge
HP:0000463 Anteverted nares
HP:0000486 Strabismus
HP:0000508 Ptosis
HP:0000612 Iris coloboma
HP:0000639 Nystagmus
Displaying 1 entry
Gene ID Gene Symbol Description
56623 INPP5E inositol polyphosphate-5-phosphatase E
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: February 17, 2025