Joubert syndrome 16

General Information (adopted from Orphanet):

Synonyms, Signs: JBTS16
Number of Symptoms 18
OrphanetNr:
OMIM Id: 614465
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 oculorenal 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:0000800) Cystic renal dysplasia 31 / 7739
2
(HPO:0000107) Renal cyst rare [HPO:skoehler] 126 / 7739
3
(HPO:0000090) Nephronophthisis rare [HPO:skoehler] 42 / 7739
4
(HPO:0000113) Polycystic kidney dysplasia 75 / 7739
5
(HPO:0002084) Encephalocele rare [HPO:skoehler] 70 / 7739
6
(HPO:0001305) Dandy-Walker malformation rare [HPO:skoehler] 79 / 7739
7
(HPO:0011815) Cephalocele 5 / 7739
8
(HPO:0000589) Coloboma 47 / 7739
9
(HPO:0000657) Oculomotor apraxia 54 / 7739
10
(HPO:0001135) Chorioretinal dystrophy 18 / 7739
11
(HPO:0007731) Chorioretinal dysplasia 16 / 7739
12
(HPO:0000556) Retinal dystrophy variable [HPO:skoehler] 65 / 7739
13
(HPO:0007973) Retinal dysplasia 27 / 7739
14
(HPO:0001161) Hand polydactyly 71 / 7739
15
(HPO:0010442) Polydactyly rare [HPO:skoehler] 69 / 7739
16
(HPO:0001829) Foot polydactyly 41 / 7739
17
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
18
(HPO:0002419) Molar tooth sign on MRI 27 / 7739

Associated genes:

TMEM138;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Joubert syndrome-16 is an autosomal recessive developmental disorder characterized by the molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement. The phenotype is indistinguishable from that of JBTS2 (608091) (summary by Lee et ...
Clinical Description OMIM Lee et al. (2012) reported 8 consanguineous Arab families with Joubert syndrome. The phenotype included the molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement. One patient had polydactyly and a fetus had ...
Molecular genetics OMIM By repeat sequencing of candidate genes in 6 consanguineous Arab families with Joubert syndrome showing linkage to the JBTS2 locus (608091) on chromosome 11q13, but who were negative for mutations in the TMEM216 gene (613277), Lee et al. ...