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Details of CEP41 gene in Homo sapiens
Disease |
|---|
| Disease |
OMIM id |
| Joubert syndrome 15 (JBTS15) [MIM:614464]: An autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by 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 (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis and polydactyly. Note=The disease is caused by mutations affecting the gene represented in this entry. |
614464 |
Note=Genetic variations in CEP41 may be associated with susceptibility to autism. |
614464 |
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
| Cep41 | --- | --- | Sp-Tsga14L |
