| Main clinical features
|
cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices
associated to ataxia, hypotonia, psychomotor developmental delay, mental retardation, oculomotor disorders (such as oculomotor apraxia, nystagmus, Leber congenital amaurosis), cystic dysplastic kidneys or juvenile nephronophthisis, and changes in the respiratory rythm that appear mainly in the neonatal period |