loading...| Preferred Name |
Joubert syndrome 4 |
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| Synonyms |
JBTS4 |
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| Definitions |
(JBTS4) - 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. Joubert syndrome type 4 is a phenotypically mild form. |
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| ID |
http://identifiers.org/omim/609583 |
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| altLabel |
JBTS4 |
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| definition |
(JBTS4) - 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. Joubert syndrome type 4 is a phenotypically mild form. |
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| id |
OMIM:609583 |
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| notation |
OMIM:609583 |
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| prefLabel |
Joubert syndrome 4 |
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| subClassOf |