Joubert syndrome 15

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Joubert syndrome 152016-11-26T12:49:21+00:00

Joubert syndrome 15

GENETICS, NEUROLOGY 

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  

References http://www.uniprot.org/uniprot/Q9BYV8

http://www.omim.org/entry/614464

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