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Joubert syndrome 14 (JBTS14)
Genetics:
1) autosomal recessive
2) associated with defects in THEM237 (ALS2CR4)
Clinical manifestations:
- see Joubert syndrome
- severe mental retardation
- hypotonia
- respiration abnormalities in infancy
- dysmorphic facial features
- variable features include
- renal disease,
- abnormal eye movements
- postaxial polydactyly
Radiology:
- neuroimaging
- cerebellar vermian hypoplasia/aplasia
- thickened & reoriented superior cerebellar peduncles
- abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign)
General
Joubert syndrome
Database Correlations
OMIM 614424
References
- OMIM :accession 614424