loading...| Preferred Name |
Joubert syndrome 1 |
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| Synonyms |
JBTS1 |
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| Definitions |
(JBTS1) - A 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 and renal disease. |
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| ID |
http://identifiers.org/omim/213300 |
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| altLabel |
JBTS1 |
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| definition |
(JBTS1) - A 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 and renal disease. |
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| id |
OMIM:213300 |
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| notation |
OMIM:213300 |
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| prefLabel |
Joubert syndrome 1 |
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| subClassOf |