loading...| Preferred Name |
|
|
| Synonyms |
CPD IV Pure Joubert syndrome Joubert-Boltshauser syndrome Cerebelloparenchymal disorder IV Joubert syndrome type A Classic Joubert syndrome |
|
| Definitions |
Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_475 |
|
| Obsolete |
true |
|
| database_cross_reference |
OMIM:615636 OMIM:618161 OMIM:614424 OMIM:213300 OMIM:617622 OMIM:614175 OMIM:614173 OMIM:616784 OMIM:616781 OMIM:612291 OMIM:616654 OMIM:614615 OMIM:614464 OMIM:610688 OMIM:617120 MedDRA:10078574 OMIM:617757 OMIM:617767 OMIM:617761 OMIM:614970 ICD10:Q04.3 OMIM:616490 |
|
| definition |
Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. |
|
| definition_citation |
orphanet |
|
| deprecated |
true |
|
| has_exact_synonym |
Classic Joubert syndrome Joubert syndrome type A Cerebelloparenchymal disorder IV Joubert-Boltshauser syndrome Pure Joubert syndrome CPD IV |
|
| label |
obsolete_Joubert syndrome |
|
| obsoleted_in_version |
3.41.0 |
|
| reason_for_obsolescence |
Replaced with Mondo term. |
|
| term replaced by | ||
| subClassOf |