Joubert syndrome 15
An autosomal recessive developmental disorder (OMIM:614464) characterised by cerebellar ataxia, hypotonia, oculomotor apraxia, neonatal dyspnoea, psychomotor delay, and mental retardation. Variable features include retinal dystrophy, renal disease, liver fibrosis and polydactyly.
Imaging Cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa on transaxial slices (molar tooth sign).
Molecular pathology Defects of CEP41, which encodes a centrosomal and microtubule-binding protein required during ciliogenesis, cause Joubert syndrome 15.
Synonyms Joubert syndrome digenic 9/15, Joubert syndrome digenic 12/15