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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

External Links

Disease Ontology

DOID:0110985

Mondo Disease Ontology

MONDO:0013764

OMIM

614465

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
51524	TMEM138	transmembrane protein 138	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
72982	Tmem138	transmembrane protein 138	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
361728	Tmem138	transmembrane protein 138	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
100332440	tmem138	transmembrane protein 138	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source	Organism
493444	tmem138	transmembrane protein 138	Alliance of Genome Resources	Xenopus tropicalis (tropical clawed frog)

The Human Phenotype Ontology

Displaying entries **1 - 10** of 37 in total

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HPO ID	HPO Term
HP:0001251	Ataxia
HP:0002876	Episodic tachypnea
HP:0000508	Ptosis
HP:0002084	Encephalocele
HP:0000369	Low-set ears
HP:0001320	Cerebellar vermis hypoplasia
HP:0002269	Abnormality of neuronal migration
HP:0000864	Abnormality of the hypothalamus-pituitary axis
HP:0000238	Hydrocephalus
HP:0001696	Situs inversus totalis