Joubert syndrome 1 (JBTS1)
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Pathology
- cerebellar vermian hypoplasia/aplasia,
- thickened & reoriented superior cerebellar peduncles
- abnormally large interpeduncular fossa
- variable features include retinal dystrophy & renal disease
Genetics
-associated with defects in INPP5E
Clinical manifestations
- cerebellar ataxia
- oculomotor apraxia
- hypotonia
- neonatal breathing abnormalitie
- psychomotor delay
More general terms
References
- ↑ National Institute of Neurological Disorders and Stroke (NINDS) NINDS Joubert Syndrome Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Joubert-Syndrome-Information-Page
- ↑ OMIM https://mirror.omim.org/entry/213300