Joubert syndrome type 5

An autosomal recessive disorder (OMIM:610188) 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
Caused by defects of CEP290, which encodes a protein belonging to the tectonic-like complex that is required for tissue-specific ciliogenesis and may regulate cilia membrane composition.

单词	joubert syndrome type 5
释义	Joubert syndrome type 5 Joubert syndrome type 5 An autosomal recessive disorder (OMIM:610188) 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 Caused by defects of CEP290, which encodes a protein belonging to the tectonic-like complex that is required for tissue-specific ciliogenesis and may regulate cilia membrane composition.
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