Joubert syndrome 21

General Information (adopted from Orphanet):

Synonyms, Signs: JBTS21
Number of Symptoms 41
OrphanetNr:
OMIM Id: 615636
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
24360808 [IBIS]
Age of onset: Infancy
24360808 [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:0000590) Progressive external ophthalmoplegia 24360808 IBIS 23 / 7739
2
 (HPO:0002910) Elevated hepatic transaminases 24360808 IBIS 158 / 7739
3
 (HPO:0001744) Splenomegaly 24360808 IBIS 337 / 7739
4
 (HPO:0000365) Hearing impairment 24360808 IBIS 539 / 7739
5
 (HPO:0002015) Dysphagia 24360808 IBIS 301 / 7739
6
 (HPO:0000648) Optic atrophy 24360808 IBIS 238 / 7739
7
 (HPO:0000316) Hypertelorism 24360808 IBIS 644 / 7739
8
 (HPO:0000508) Ptosis 24360808 IBIS 459 / 7739
9
 (HPO:0000639) Nystagmus 24360808 IBIS 555 / 7739
10
 (HPO:0002104) Apnea 24360808 IBIS 106 / 7739
11
 (HPO:0001250) Seizures 24360808 IBIS 1245 / 7739
12
 (HPO:0002789) Tachypnea 24360808 IBIS 48 / 7739
13
 (HPO:0000657) Oculomotor apraxia 24360808 IBIS 54 / 7739
14
 (HPO:0001251) Ataxia 24360808 IBIS 413 / 7739
15
 (HPO:0001252) Muscular hypotonia 24360808 IBIS 990 / 7739
16
 (HPO:0007033) Cerebellar dysplasia 24360808 IBIS 13 / 7739
17
 (HPO:0001320) Cerebellar vermis hypoplasia 24360808 IBIS 57 / 7739
18
 (HPO:0002282) Heterotopia 24360808 IBIS 21 / 7739
19
 (HPO:0002699) Abnormality of the foramen magnum 24360808 IBIS 2 / 7739
20
 (HPO:0004719) Hyperechogenic kidneys rare [HPO:skoehler] 24360808 IBIS 10 / 7739
21
 (HPO:0000556) Retinal dystrophy 24360808 IBIS 65 / 7739
22
 (HPO:0011109) Chronic sinusitis 24360808 IBIS 17 / 7739
23
 (HPO:0001395) Hepatic fibrosis 24360808 IBIS 67 / 7739
24
 (HPO:0000175) Cleft palate 24360808 IBIS 349 / 7739
25
 (HPO:0001263) Global developmental delay 24360808 IBIS 853 / 7739
26
 (HPO:0002085) Occipital encephalocele rare [HPO:skoehler] 24360808 IBIS 20 / 7739
27
 (HPO:0000107) Renal cyst rare [HPO:skoehler] 126 / 7739
28
 (HPO:0000528) Anophthalmia rare [HPO:skoehler] 42 / 7739
29
 (HPO:0007291) Posterior fossa cyst 10 / 7739
30
 (HPO:0009932) Single naris rare [HPO:skoehler] 10 / 7739
31
 (HPO:0000486) Strabismus 576 / 7739
32
 (HPO:0000488) Retinopathy rare [HPO:skoehler] 75 / 7739
33
 (HPO:0000407) Sensorineural hearing impairment rare [HPO:skoehler] 524 / 7739
34
 (HPO:0001249) Intellectual disability 1089 / 7739
35
 (HPO:0001591) Bell-shaped thorax rare [HPO:skoehler] 35 / 7739
36
 (HPO:0002089) Pulmonary hypoplasia rare [HPO:skoehler] 80 / 7739
37
 (HPO:0002094) Dyspnea 132 / 7739
38
 (HPO:0003828) Variable expressivity 130 / 7739
39
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
40
 (HPO:0011933) Elongated superior cerebellar peduncle 6 / 7739
41
 (HPO:0002365) Hypoplasia of the brainstem 41 / 7739

Associated genes:

CSPP1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: