Joubert syndrome 17

General Information (adopted from Orphanet):

Synonyms, Signs: JBTS17
Number of Symptoms 18
OrphanetNr:
OMIM Id: 614615
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:0000657) Oculomotor apraxia 54 / 7739
2
(HPO:0001251) Ataxia 413 / 7739
3
(HPO:0001263) Global developmental delay 853 / 7739
4
(HPO:0001159) Syndactyly rare [HPO:skoehler] 140 / 7739
5
(HPO:0001829) Foot polydactyly 41 / 7739
6
(HPO:0004691) 2-3 toe syndactyly 50 / 7739
7
(HPO:0010621) Cutaneous syndactyly of toes 36 / 7739
8
(HPO:0010442) Polydactyly rare [HPO:skoehler] 69 / 7739
9
(HPO:0001770) Toe syndactyly 149 / 7739
10
(HPO:0009700) Finger symphalangism 55 / 7739
11
(HPO:0001161) Hand polydactyly 71 / 7739
12
(HPO:0002883) Hyperventilation 10 / 7739
13
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
(OMIM) Brain MRI shows molar tooth sign 1 / 7739
15
(OMIM) Cerebellar vermis agenesis 1 / 7739
16
(HPO:0001320) Cerebellar vermis hypoplasia 57 / 7739
17
(OMIM) Abnormal breathing pattern 8 / 7739
18
(OMIM) Hyperventilation, episodic 1 / 7739

Associated genes:

C5orf42;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Joubert et al. (1969) described 4 French Canadian sibs, born of distantly related parents, with a severe neurologic disorder characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation. Partial or complete agenesis of the cerebellar ...
Molecular genetics OMIM In affected individuals from 7 French Canadian families with Joubert syndrome-17, Srour et al. (2012) identified 6 different potentially pathogenic mutations in the C5ORF42 gene (614571.0001-614571.0006). The mutations were found by exome sequencing and confirmed by Sanger sequencing. ...