loading...| Preferred Name |
Joubert syndrome 4 |
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| Synonyms |
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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://purl.obolibrary.org/obo/OMIM_609583 |
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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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cell_cycle_ontology |
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| id |
OMIM:609583 |
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| label |
Joubert syndrome 4 |
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| notation |
OMIM:609583 |
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| prefLabel |
Joubert syndrome 4 |
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