Joubert syndrome type 6

An autosomal recessive disorder (OMIM:610688) characterised by cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities, 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 TMEM67, which encodes meckelin, a key ciliary protein.

单词	joubert syndrome type 6
释义	Joubert syndrome type 6 Joubert syndrome type 6 An autosomal recessive disorder (OMIM:610688) characterised by cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities, 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 TMEM67, which encodes meckelin, a key ciliary protein.
随便看	ancient roman art ancient roman bath houses ancient roman empire ancient roman units of measurement ancient rome ancient roots translinear bible ancient rosae crucis ancientry ancient régime ancients ancient schwannoma ancient scots ancient see of linköping ancient see of odense ancient see of roskilde in denmark ancient see of trondhjem ancient see of westeraas ancient semites ancient semitic peoples ancient semitic religion ancient sparta ancient sumer (eight features of civilization) ancient times ancient tomb ancient troy