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GENATLAS PHENOTYPE
last update : 07-12-2011
Symbol JBTS14
Location 2q33
Name Joubert syndrome 14
Corresponding gene TMEM237
Genetic determination autosomal recessive
Related entries . cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices associated to ataxia, hypotonia, psychomotor developmental delay, oculomotor disorders (such as oculomotor apraxia, nystagmus, Leber congenital amaurosis), cystic dysplastic kidneys or juvenile nephronophthisis, and changes in the respiratory rythm that appear mainly in the neonatal period
Function/system disorder kidney and urinary tract
eye
neurology
Type disease
Remark(s)