Joubert syndrome 7

General Information (adopted from Orphanet):

Synonyms, Signs: JBTS7
Number of Symptoms 10
OrphanetNr:
OMIM Id: 611560
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 with renal defect
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000090) Nephronophthisis 42 / 7739
2
 (HPO:0002084) Encephalocele 70 / 7739
3
 (HPO:0000508) Ptosis 459 / 7739
4
 (HPO:0000657) Oculomotor apraxia 54 / 7739
5
 (HPO:0000639) Nystagmus 555 / 7739
6
 (HPO:0001249) Intellectual disability 1089 / 7739
7
 (HPO:0001251) Ataxia 413 / 7739
8
 (HPO:0100259) Postaxial polydactyly 85 / 7739
9
 (HPO:0002419) Molar tooth sign on MRI 27 / 7739
10
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

RPGRIP1L;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Delous et al. (2007) reported 4 patients from 3 French families with Joubert syndrome and renal disease. Clinical features included the molar tooth sign on brain MRI, oculomotor apraxia, ptosis, nystagmus, cerebellar ataxia, and nephronophthisis. All children except ...
Molecular genetics OMIM In French patients with Joubert syndrome and renal disease, Delous et al. (2007) identified homozygous or compound heterozygous mutations in the RPGRIP1L gene (see, e.g., 610937.0001-610937.0004).

In patients with Joubert syndrome, Arts et al. (2007) identified ...