Joubert syndrome and related disorders
MONDO:0015369Mondo
Findings
No curated finding names Joubert syndrome and related disorders yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the "molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.
Definition from the Mondo Disease Ontology (MONDO:0015369), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
1 name
Resolves to: Joubert syndrome and related disorders
- Also called
- JSRD