Joubert syndrome 8

General Information (adopted from Orphanet):

Synonyms, Signs: JBTS8
Number of Symptoms 5
OrphanetNr:
OMIM Id: 612291
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
23870701 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Joubert syndrome
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000657) Oculomotor apraxia 18674751 IBIS 54 / 7739
2
(HPO:0001263) Global developmental delay 18674751 IBIS 853 / 7739
3
(HPO:0001252) Muscular hypotonia 18674751 IBIS 990 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(HPO:0002419) Molar tooth sign on MRI 18674751 IBIS 27 / 7739

Associated genes:

ARL13B;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Cantagrel et al. (2008) studied 2 families with Joubert syndrome in which novel mutations in the ARL13B gene were subsequently found. The phenotype consisted predominantly of classical Joubert syndrome, with all patients displaying the molar tooth sign. In ...
Molecular genetics OMIM The JBTS8 interval defined by Cantagrel et al. (2008) contained 41 genes, of which 4 were considered strong candidates based on their identification within the cilia proteome. In the Pakistani family in which linkage to 3p12.3-q12.3 was established, ...