Joubert syndrome type 7(redirected from JBTS7)
Joubert syndrome type 7An autosomal recessive disorder (OMIM:611560) 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 RPGRIP1L, which encodes a protein that may be involved in apoptosis, craniofacial development, patterning of limbs and formation of the left-right axis.
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