Joubert syndrome 13

General Information (adopted from Orphanet):

Synonyms, Signs: JBTS13
Number of Symptoms 5
OrphanetNr:
OMIM Id: 614173
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
 (OMIM) Molar tooth sign on brain MRI 2 / 7739
2
 (OMIM) Frontotemporal pachygyria (1 patient) 1 / 7739
3
 (OMIM) Normal renal ultrasound at ages 4 and 7 1 / 7739
4
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
 (HPO:0001320) Cerebellar vermis hypoplasia 57 / 7739

Associated genes:

TECT1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Garcia-Gonzalo et al. (2011) reported 2 sisters, born of consanguineous Bangladeshi parents, with Joubert syndrome. Brain MRI showed cerebellar vermis hypoplasia and the molar tooth sign, the characteristic radiographic feature of Joubert syndrome. One girl also had bilateral ...
Molecular genetics OMIM By homozygosity mapping followed by candidate gene sequencing, Garcia-Gonzalo et al. (2011) identified a homozygous splice site mutation in the TCTN1 gene (609863.0001) in 2 sisters, born of consanguineous Bangladeshi parents, with JBTS13. The TCTN1 gene was found ...