Joubert syndrome type 2

Joubert syndrome type 2

An autosomal recessive disorder (OMIM:608091) characterised by ataxia, oculomotor apraxia, hypotonia, neonatal breathing defects, psychomotor delay, retinal dystrophy and renal disease.

Imaging
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).
 
Molecular pathology
Defects of TMEM216, which encodes a transmembrane domain-containing protein required for tissue-specific ciliogenesis, cause Joubert syndrome type 2.
References in periodicals archive ?
Other diseases of connection to Ashkenazi Jews are Familial Hyperinsulinism, Joubert Syndrome Type 2, Lipoamide Dehydrogenase Deficiency (E3), Nemaline Myopathy, Spinal Muscular Atrophy (SMA), Usher Syndrome Type 3, Usher Syndrom Type I, and Walker Warburg Syndrome.