Joubert syndrome 15

General Information (adopted from Orphanet):

Synonyms, Signs: JOUBERT SYNDROME 12/15, DIGENIC, INCLUDED
JBTS15 JOUBERT SYNDROME 9/15, DIGENIC, INCLUDED
Number of Symptoms 22
OrphanetNr:
OMIM Id: 614464
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:0000090) Nephronophthisis rare [HPO:skoehler] 42 / 7739
2
 (HPO:0000800) Cystic renal dysplasia 31 / 7739
3
 (HPO:0000062) Ambiguous genitalia rare [HPO:skoehler] 74 / 7739
4
 (HPO:0000113) Polycystic kidney dysplasia 75 / 7739
5
 (HPO:0000054) Micropenis 257 / 7739
6
 (HPO:0000657) Oculomotor apraxia variable [HPO:skoehler] 54 / 7739
7
 (HPO:0000488) Retinopathy rare [HPO:skoehler] 75 / 7739
8
 (HPO:0000556) Retinal dystrophy rare [HPO:skoehler] 65 / 7739
9
 (HPO:0001263) Global developmental delay 853 / 7739
10
 (HPO:0001249) Intellectual disability 1089 / 7739
11
 (HPO:0001251) Ataxia 413 / 7739
12
 (HPO:0001161) Hand polydactyly 71 / 7739
13
 (HPO:0001829) Foot polydactyly 41 / 7739
14
 (HPO:0010442) Polydactyly variable [HPO:skoehler] 69 / 7739
15
 (HPO:0001324) Muscle weakness 859 / 7739
16
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
17
 (HPO:0001252) Muscular hypotonia 990 / 7739
18
 (HPO:0010547) Muscle flaccidity 466 / 7739
19
 (HPO:0002419) Molar tooth sign on MRI 27 / 7739
20
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
21
 (OMIM) Liver abnormalities, mild (1 patient) 1 / 7739
22
 (MedDRA:10006334) Breathing abnormalities 3 / 7739

Associated genes:

CEP41;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Joubert syndrome-15 is an autosomal recessive developmental disorder characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation. Other features, such as polydactyly, breathing abnormalities, and oculomotor apraxia, are variable (summary by Lee et al., 2012). ...
Clinical Description OMIM Lee et al. (2012) reported 8 patients from 3 consanguineous families with Joubert syndrome. All patients had hypotonia, ataxia, psychomotor delay with mental retardation, and the molar tooth sign on brain imaging. More variable features included postaxial polydactyly, ...
Molecular genetics OMIM

In affected members of 3 consanguineous families with Joubert syndrome-15, 2 of Egyptian origin and 1 Portuguese, Lee et al. (2012) identified 3 different homozygous loss-of-function mutations in the CEP41 gene (610523.0001-610523.0003). The first mutation was ...