Joubert syndrome type 6(redirected from JBTS6)
Joubert syndrome type 6An autosomal recessive disorder (OMIM:610688) characterised by cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities, 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 TMEM67, which encodes meckelin, a key ciliary protein.
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