GlyCosmos Portal

Joubert syndrome 20

Synonym

Definition

A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23.

Super Class

Joubert syndrome

Disease Ontology

DOID:0110989

Mondo Disease Ontology

OMIM

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
79583	TMEM231	transmembrane protein 231	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
234740	Tmem231	transmembrane protein 231	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
361410	Tmem231	transmembrane protein 231	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
393358	tmem231	transmembrane protein 231	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source	Organism
100145127	tmem231	transmembrane protein 231	Alliance of Genome Resources	Xenopus tropicalis (tropical clawed frog)

Displaying entries **21 - 30** of 47 in total

« First

‹ Prev

1

2

3

4

5

Next ›

Last »
HPO ID	HPO Term
HP:0002553	Highly arched eyebrow
HP:0001161	Hand polydactyly
HP:0003312	Abnormal form of the vertebral bodies
HP:0001252	Hypotonia
HP:0000612	Iris coloboma
HP:0002104	Apnea
HP:0007370	Aplasia/Hypoplasia of the corpus callosum
HP:0001250	Seizure
HP:0002793	Abnormal pattern of respiration
HP:0000486	Strabismus