loading...| Preferred Name |
Joubert syndrome |
|
| Synonyms |
Joubert-Boltshauser-Syndrom Joubert syndrome type A |
|
| ID |
http://www.limics.org/hrdo/rdfns#pat_id_1022 |
|
| ageOfOnset |
Neonatal/infancy Neonatale/prima infanzia Neonatal/infância Neonatal/infancy Neonatal / infancia Néonatal/petite enfance Neonatal/Kleinkindalter |
|
| altLabel |
Joubert-Boltshauser-Syndrom Joubert syndrome type A Syndrome de Joubert classique Joubert-Boltshauser syndrome Syndrome de Joubert-Boltshauser Síndrome de Joubert puro Syndrome de Joubert type A Zerebello-parenchymale Krankheit IV Sindrome di Joubert-Boltshauser Disturbo cerebelloparenchimale IV Agenesia do vermis cerebeloso Joubert-Syndrom, reines CPD IV CPD IV Syndrome de Joubert pur Sindrome di Joubert pura Joubert-Syndrom Typ A Cerebelloparenchymal disorder IV CPD IV CPD IV Síndrome de Joubert clásico Cerebeloparenquimatosa IV, doença (CPD IV) Síndrome de Joubert-Boltshauser Pure Joubert syndrome Sindrome di Joubert classica Sindrome di Joubert, tipo A Doença cerebeloparenquimatosa IV (CPD IV) Classic Joubert syndrome Klassisches Joubert-Syndrom (JS) |
|
| id_Medline | ||
| id_MIM |
213300 610688 612291 614173 614424 614464 614615 614970 |
|
| id_OMS |
Q04.3 |
|
| id_Orpha |
475 |
|
| inheritance |
Autosómico recesivo Autosomal recessive Autossómica recessiva Autosomica recessiva Autosomal recessive Autosomique récessif Autosomal-rezessiv |
|
| patType |
disease |
|
| prefixIRI |
hrdo:pat_id_1022 |
|
| prefLabel |
Síndrome de Joubert Joubert-Syndrom Sindrome di Joubert Síndrome de Joubert Syndrome de Joubert Joubert syndrome |
|
| prevalence |
1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 |
|
| subClassOf |