Joubert syndrome

Term ID

DOID:0050777

Synonyms

JBTS

Definition

A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. (2)

References

GARD:6802
ICD10CM:Q04.3
OMIM:PS213300
ORDO:475

Ontology

Human Disease ( DOID:0050777 )

Relationships

is a type of: brain disease ciliopathy

brain disease ciliopathy Show first 5 Terms
has subtype: Joubert syndrome 1 Joubert syndrome 2 Joubert syndrome 3 Joubert syndrome 4 Joubert syndrome 5 ... Show All 31 Terms

Joubert syndrome 1 Joubert syndrome 2 Joubert syndrome 3 Joubert syndrome 4 Joubert syndrome 5 Joubert syndrome 6 Joubert syndrome 7 Joubert syndrome 8 Joubert syndrome 9 Joubert syndrome 10 Joubert syndrome 13 Joubert syndrome 14 Joubert syndrome 15 Joubert syndrome 16 Joubert syndrome 17 Joubert syndrome 18 Joubert syndrome 20 Joubert syndrome 21 Joubert syndrome 22 Joubert syndrome 23 Joubert syndrome 24 Joubert syndrome 25 Joubert syndrome 26 Joubert syndrome 27 Joubert syndrome 28 Joubert syndrome 29 Joubert syndrome 30 Joubert syndrome 31 Joubert syndrome 32 Joubert syndrome 33 Joubert syndrome with orofaciodigital defect Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations