Joubert syndrome 14

General Information (adopted from Orphanet):

Synonyms, Signs: JBTS14
Number of Symptoms 40
OrphanetNr:
OMIM Id: 614424
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:0000107) Renal cyst 126 / 7739
2
(HPO:0000322) Short philtrum 130 / 7739
3
(HPO:0000286) Epicanthus 371 / 7739
4
(HPO:0002084) Encephalocele 70 / 7739
5
(HPO:0000494) Downslanted palpebral fissures 328 / 7739
6
(HPO:0000568) Microphthalmia 183 / 7739
7
(HPO:0000490) Deeply set eye 131 / 7739
8
(HPO:0000316) Hypertelorism 644 / 7739
9
(HPO:0002553) Highly arched eyebrow 92 / 7739
10
(HPO:0000426) Prominent nasal bridge 121 / 7739
11
(HPO:0000194) Open mouth 70 / 7739
12
(HPO:0001305) Dandy-Walker malformation 79 / 7739
13
(HPO:0000272) Malar flattening 277 / 7739
14
(HPO:0010804) Tented upper lip vermilion 47 / 7739
15
(HPO:0000639) Nystagmus 555 / 7739
16
(HPO:0000508) Ptosis 459 / 7739
17
(HPO:0000589) Coloboma 47 / 7739
18
(HPO:0000486) Strabismus 576 / 7739
19
(HPO:0000369) Low-set ears 372 / 7739
20
(HPO:0000358) Posteriorly rotated ears 163 / 7739
21
(HPO:0010864) Intellectual disability, severe 120 / 7739
22
(HPO:0001251) Ataxia 413 / 7739
23
(HPO:0000737) Irritability 93 / 7739
24
(HPO:0100259) Postaxial polydactyly 85 / 7739
25
(HPO:0001510) Growth delay 295 / 7739
26
(HPO:0000822) Hypertension variable [HPO:skoehler] 224 / 7739
27
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
28
(HPO:0001324) Muscle weakness 859 / 7739
29
(HPO:0001252) Muscular hypotonia 990 / 7739
30
(HPO:0010547) Muscle flaccidity 466 / 7739
31
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
32
(HPO:0002419) Molar tooth sign on MRI 27 / 7739
33
(HPO:0006817) Aplasia/Hypoplasia of the cerebellar vermis 15 / 7739
34
(OMIM) Abnormal breathing pattern 8 / 7739
35
(OMIM) Tall forehead 4 / 7739
36
(OMIM) Morning glory disc anomaly (1 family) 1 / 7739
37
(OMIM) Delayed psychomotor development, severe to profound 1 / 7739
38
(OMIM) Posterior fossa abnormalities 2 / 7739
39
(HPO:0000238) Hydrocephalus 278 / 7739
40
(OMIM) Small midbrain 1 / 7739

Associated genes:

TMEM237;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings ...
Clinical Description OMIM Boycott et al. (2007) reported 10 patients with Joubert syndrome in a Canadian Hutterite population. Clinical features included severe to profound developmental delay, hypotonia, ataxia, abnormal breathing pattern, nystagmus, strabismus, and the molar tooth sign. The characteristic facial ...
Molecular genetics OMIM By homozygosity mapping followed by candidate gene analysis in 10 related Canadian Hutterite families with Joubert syndrome-14 (Boycott et al., 2007), Huang et al. (2011) identified a homozygous truncating mutation in the TMEM237 gene (R18X; 614423.0001). Homozygous or ...
Population genetics OMIM In a carrier screening of autosomal recessive mutations involving 1,644 Schmiedeleut (S-leut) Hutterites in the United States, Chong et al. (2012) identified the Joubert syndrome mutation R18X (dbSNP rs199469707; 614423.0001) in heterozygous state in 122 individuals among 1,520 ...