Joubert syndrome 1

General Information (adopted from Orphanet):

Synonyms, Signs: CEREBELLOOCULORENAL SYNDROME 1
CEREBELLOPARENCHYMAL DISORDER IV
JOUBERT SYNDROME
JOUBERT-BOLTSHAUSER SYNDROME
CPD4
JBTS
CORS1
JBTS1
Number of Symptoms 13
OrphanetNr:
OMIM Id: 213300
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:0000252) Microcephaly 19668216 IBIS 832 / 7739
2
(HPO:0001357) Plagiocephaly 19668216 IBIS 106 / 7739
3
(HPO:0002910) Elevated hepatic transaminases 19668216 IBIS 158 / 7739
4
(HPO:0001395) Hepatic fibrosis 19668216 IBIS 67 / 7739
5
(HPO:0002094) Dyspnea 19668216 IBIS 132 / 7739
6
(HPO:0000657) Oculomotor apraxia 19668216 IBIS 54 / 7739
7
(HPO:0001249) Intellectual disability 19668216 IBIS 1089 / 7739
8
(HPO:0001263) Global developmental delay 19668216 IBIS 853 / 7739
9
(HPO:0001251) Ataxia 19668216 IBIS 413 / 7739
10
(HPO:0001252) Muscular hypotonia 19668216 IBIS 990 / 7739
11
(HPO:0000488) Retinopathy 19668216 IBIS 75 / 7739
12
(HPO:0002419) Molar tooth sign on MRI 19668216 IBIS 27 / 7739
13
(HPO:0000107) Renal cyst 19668216 IBIS 126 / 7739

Associated genes:

INPP5E;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic 'molar tooth sign,' and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. Other ...
Clinical Description OMIM De Haene (1955) collected from the literature 4 cases of total and 7 cases of partial agenesis of the vermis of the cerebellum, and added the only familial example: 3 brothers (1 autopsy) died at ages 4 to ...
Molecular genetics OMIM In affected members of 7 families with Joubert syndrome, Bielas et al. (2009) identified 5 different homozygous mutations in the INPP5E gene (see, e.g., 613037.0002-613037.0005). Three families were from the United Arab Emirates, 1 from Turkey, 1 from ...