Joubert syndrome 20

General Information (adopted from Orphanet):

Synonyms, Signs: JBTS20
Number of Symptoms 23
OrphanetNr:
OMIM Id: 614970
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
23870701 [IBIS]
Age of onset: Congenital onset
[Omim]

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:0000107) Renal cyst common [HPO:skoehler] 126 / 7739
2
 (HPO:0000657) Oculomotor apraxia obligate [HPO:skoehler] 54 / 7739
3
 (HPO:0000488) Retinopathy rare [HPO:skoehler] 75 / 7739
4
 (HPO:0000718) Aggressive behavior common [HPO:skoehler] 109 / 7739
5
 (HPO:0000742) Self-mutilation common [HPO:skoehler] 27 / 7739
6
 (HPO:0001344) Absent speech obligate [HPO:skoehler] 57 / 7739
7
 (HPO:0001263) Global developmental delay obligate [HPO:skoehler] 853 / 7739
8
 (HPO:0009700) Finger symphalangism 55 / 7739
9
 (HPO:0100259) Postaxial polydactyly common [HPO:skoehler] 85 / 7739
10
 (HPO:0001770) Toe syndactyly 149 / 7739
11
 (HPO:0001162) Postaxial hand polydactyly 119 / 7739
12
 (HPO:0010621) Cutaneous syndactyly of toes 36 / 7739
13
 (HPO:0004691) 2-3 toe syndactyly 50 / 7739
14
 (HPO:0001159) Syndactyly rare [HPO:skoehler] 140 / 7739
15
 (HPO:0002093) Respiratory insufficiency obligate [HPO:skoehler] 410 / 7739
16
 (OMIM) Lack of speech 17 / 7739
17
 (HPO:0003577) Congenital onset 133 / 7739
18
 (OMIM) Lack of independent ambulation 6 / 7739
19
 (OMIM) Molar tooth sign seen on MRI 1 / 7739
20
 (HPO:0000007) Autosomal recessive inheritance common [HPO:skoehler] 2538 / 7739
21
 (HPO:0002419) Molar tooth sign on MRI obligate [HPO:skoehler] 27 / 7739
22
 (MedDRA:10006334) Breathing abnormalities 3 / 7739
23
 (OMIM) Delayed psychomotor development, severe 14 / 7739

Associated genes:

TMEM231;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Srour et al. (2012) reported 3 patients from 2 unrelated French Canadian families with Joubert syndrome. The patients were 14, 9, and 4 years old, respectively. All had developmental delay and were nonverbal and nonambulatory. Other features included ...
Molecular genetics OMIM In 3 patients from 2 French Canadian families with Joubert syndrome-20, Srour et al. (2012) identified compound heterozygosity for 2 mutations in the TMEM231 gene (614949.0001 and 614949.0002). The mutations were identified by exome sequencing and confirmed by ...