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Joubert syndrome and related disorders

Disease Summary
Associated Targets (40)
Tbio

36

Tdark

3

Tclin

1


Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0015369:  Joubert syndrome and related disorders
Orphanet:140874: 
UMLS:CN199461: