loading...| Preferred Name |
Joubert syndrome |
|
| Synonyms |
Joubert syndrome type A |
|
| Definitions |
A rare, autosomal recessive congenital cerebellar ataxia 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. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_475 |
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| alternative_term |
Joubert syndrome type A Joubert-Boltshauser syndrome CPD IV Cerebelloparenchymal disorder IV Pure Joubert syndrome Classic Joubert syndrome |
|
| definition |
A rare, autosomal recessive congenital cerebellar ataxia 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 |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=475 |
|
| has_age_of_onset |
Antenatal |
|
| has_inheritance |
Autosomal recessive |
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| hasDbXref |
ICD-11:LD20.00 OMIM:300804 OMIM:608091 OMIM:615665 OMIM:619476 OMIM:615636 OMIM:619582 OMIM:618161 OMIM:614424 OMIM:619562 OMIM:213300 OMIM:617622 OMIM:614173 OMIM:616784 OMIM:616781 ICD-10:Q04.3 UMLS:C0431399 OMIM:618763 OMIM:610188 OMIM:612291 OMIM:616654 OMIM:614615 OMIM:614464 OMIM:614465 OMIM:608629 OMIM:609583 OMIM:614815 OMIM:619185 OMIM:612285 OMIM:610688 OMIM:617121 OMIM:617120 MedDRA:10078574 OMIM:617757 OMIM:617767 OMIM:617761 OMIM:611560 OMIM:614970 OMIM:616490 |
|
| label |
Joubert syndrome |
|
| notation |
ORPHA:475 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_269560 http://www.orpha.net/ORDO/Orphanet_98514 http://www.orpha.net/ORDO/Orphanet_611327 |
|
| prefixIRI |
ORDO:Orphanet_475 |
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| prefLabel |
Joubert syndrome |
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| present_in |
Italy AND has_point_prevalence_average_value : 0.47 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 1.6666 AND has_birth_prevalence_range : 1-9 / 100 000 Spain AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_269560 http://www.orpha.net/ORDO/Orphanet_98514 http://www.orpha.net/ORDO/Orphanet_611327 |
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| subClassOf |