Joubert syndrome type 5(redirected from JBTS5)
Joubert syndrome type 5An autosomal recessive disorder (OMIM:610188) characterised by ataxia, oculomotor apraxia, hypotonia, neonatal breathing defects, psychomotor delay, retinal dystrophy and renal disease.
Cerebellar vermis hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles and abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign).
Caused by defects of CEP290, which encodes a protein belonging to the tectonic-like complex that is required for tissue-specific ciliogenesis and may regulate cilia membrane composition.
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