Joubert syndrome and related disorders
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. [ ]
Term info
Joubert syndrome and related disorders
- JSRD
- Joubert syndrome and related disorders
disease_grouping, ordo_group_of_disorders
http://linkedlifedata.com/resource/umls/id/CN199461, http://purl.obolibrary.org/obo/Orphanet_140874
MONDO:0015369