Joubert syndrome 7

NEUROLOGY

Definition An autosomal recessive disorder (OMIM:611560) characterised by cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay, retinal dystrophy and renal disease.

Imaging Cerebellar vermis demonstrates 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). 

Molecular pathology 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, cause Joubert syndrome 7. 

Reference http://www.uniprot.org/uniprot/Q5HYA8

http://www.omim.org/entry/611560