Joubert syndrome

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Information
Disease name
Joubert syndrome
Disease ID
DOID:0050777
Description
"A ciliopathy that 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." [url:http\://en.wikipedia.org/wiki/Joubert_syndrome, url:http\://omim.org/entry/213300?search=joubert&highlight=joubert]
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
INPP5E 9 136,428,619 136,439,845 4
ADAMTSL2 9 133,532,164 133,575,519 2
Annotation
NCT ID Status Phase Summary Start date Completion date
NCT00873678 Completed Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome March 2007 January 2010
NCT04874909 Recruiting N/A Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM) November 8, 2021 November 2024
NCT01401998 Unknown status UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource June 2011 December 2022
Disase is a (Disease Ontology)
DOID:0060340
Cross Reference ID (Disease Ontology)
GARD:6802
Cross Reference ID (Disease Ontology)
ICD10CM:Q04.3
Cross Reference ID (Disease Ontology)
MIM:PS213300
Cross Reference ID (Disease Ontology)
ORDO:475
Exact Synonym (Disease Ontology)
JBTS
OMIM Phenotype Series Number (OMIM)
PS213300
OrphaNumber from OrphaNet (Orphanet)
475