Joubert syndrome 28

General Information (adopted from Orphanet):

Synonyms, Signs: JBTS28
Number of Symptoms 17
OrphanetNr:
OMIM Id: 617121
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
26490104 [IBIS]
Age of onset: Childhood
26490104 [IBIS]

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 26490104 IBIS 54 / 7739
2
 (HPO:0001631) Atria septal defect 26490104 IBIS 274 / 7739
3
 (HPO:0001647) Bicuspid aortic valve 26490104 IBIS 34 / 7739
4
 (HPO:0001650) Aortic valve stenosis 26490104 IBIS 49 / 7739
5
 (HPO:0001250) Seizures 26490104 IBIS 1245 / 7739
6
 (HPO:0000486) Strabismus 26490104 IBIS 576 / 7739
7
 (HPO:0010535) Sleep apnea 26490104 IBIS 24 / 7739
8
 (HPO:0030084) Clinodactyly 26490104 IBIS 90 / 7739
9
 (HPO:0000028) Cryptorchidism 26490104 IBIS 347 / 7739
10
 (HPO:0000508) Ptosis 26490104 IBIS 459 / 7739
11
 (HPO:0010442) Polydactyly 26490104 IBIS 69 / 7739
12
 (HPO:0001395) Hepatic fibrosis 26490104 IBIS 67 / 7739
13
 (HPO:0000077) Abnormality of the kidney 26490104 IBIS 73 / 7739
14
 (HPO:0000589) Coloboma 26490104 IBIS 47 / 7739
15
 (HPO:0000556) Retinal dystrophy 26490104 IBIS 65 / 7739
16
 (HPO:0002085) Occipital encephalocele 26490104 IBIS 20 / 7739
17
 (HPO:0002419) Molar tooth sign on MRI 26490104 IBIS 27 / 7739

Associated genes:

MKS1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: