Joubert syndrome 18

General Information (adopted from Orphanet):

Synonyms, Signs: JBTS18
Number of Symptoms 16
OrphanetNr:
OMIM Id: 614815
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 orofaciodigital defect
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare neurologic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000085) Horseshoe kidney 39 / 7739
2
 (HPO:0000347) Micrognathia 426 / 7739
3
 (HPO:0000496) Abnormality of eye movement 79 / 7739
4
 (HPO:0001249) Intellectual disability 1089 / 7739
5
 (HPO:0010442) Polydactyly 69 / 7739
6
 (HPO:0002751) Kyphoscoliosis 131 / 7739
7
 (HPO:0012385) Camptodactyly 113 / 7739
8
 (HPO:0001388) Joint laxity 117 / 7739
9
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
10
 (HPO:0001629) Ventricular septal defect 316 / 7739
11
 (OMIM) Kyphoscoliosis, severe 1 / 7739
12
 (OMIM) Vermis aplasia 1 / 7739
13
 (OMIM) Breathing anomalies 1 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
 (HPO:0002419) Molar tooth sign on MRI 27 / 7739
16
 (HPO:0003812) Phenotypic variability 129 / 7739

Associated genes:

TCTN3;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Thomas et al. (2012) studied 2 sibs, aged 13 and 6 years, from a consanguineous Turkish family with Joubert syndrome. Both sibs had vermis agenesis and the molar tooth sign as well as severe kyphoscoliosis. The older sib ...
Molecular genetics OMIM By direct sequencing of the TCTN3 in 2 Turkish sibs with Joubert syndrome, Thomas et al. (2012) identified homozygosity for the same missense mutation in both (G314R; 613847.0006).