Joubert syndrome type 9

An autosomal recessive disorder (OMIM:612285) presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay, variably accompanied by retinal dystrophy and renal disease.
Neuroimaging
Cerebellar vermis hypoplasia/aplasia, thickened or reoriented superior cerebellar peduncles and markedly enlarged interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign).
Molecular pathology
Defects of CC2D2A, which encodes a protein required for ciliogenesis and sonic hedgehog/SHH signalling, cause Joubert syndrome type 9.

单词	joubert syndrome type 9
释义	Joubert syndrome type 9 Joubert syndrome type 9 An autosomal recessive disorder (OMIM:612285) presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay, variably accompanied by retinal dystrophy and renal disease. Neuroimaging Cerebellar vermis hypoplasia/aplasia, thickened or reoriented superior cerebellar peduncles and markedly enlarged interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Molecular pathology Defects of CC2D2A, which encodes a protein required for ciliogenesis and sonic hedgehog/SHH signalling, cause Joubert syndrome type 9.
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