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Joubert syndrome 1 (JBTS1)
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
General
Joubert syndrome
Database Correlations
OMIM 213300
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 :accession 213300