Joubert syndrome with ocular defect

General Information (adopted from Orphanet):

Synonyms, Signs: JS-O
Joubert syndrome with retinopathy
Number of Symptoms 58
OrphanetNr: 220493
OMIM Id: 608629
614424
614464
614970
ICD-10: H35.5
Q04.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic syndrome with a cerebellar malformation as major feature
 -Rare genetic disease
Joubert syndrome and related disorders
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease
Oculomotor apraxia or related oculomotor disease
 -Rare eye disease
 -Rare genetic disease
Syndrome with a cerebellar malformation as major feature
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease
Syndrome with a symptomatic strabismus
 -Rare eye disease
 -Rare genetic disease
Syndromic retinitis pigmentosa
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003774) Stage 5 chronic kidney disease 78 / 7739
2
 (HPO:0000090) Nephronophthisis 42 / 7739
3
 (HPO:0000276) Long face Frequent [Orphanet] 109 / 7739
4
 (HPO:0000341) Narrow forehead Frequent [Orphanet] 96 / 7739
5
 (HPO:0000431) Wide nasal bridge 290 / 7739
6
 (HPO:0000202) Oral cleft Occasional [Orphanet] 120 / 7739
7
 (HPO:0002084) Encephalocele Occasional [Orphanet] 70 / 7739
8
 (HPO:0000194) Open mouth 70 / 7739
9
 (HPO:0000286) Epicanthus 371 / 7739
10
 (HPO:0000463) Anteverted nares Occasional [Orphanet] 305 / 7739
11
 (HPO:0002553) Highly arched eyebrow Occasional [Orphanet] 92 / 7739
12
 (HPO:0000426) Prominent nasal bridge Occasional [Orphanet] 121 / 7739
13
 (HPO:0000657) Oculomotor apraxia Very frequent [Orphanet] 54 / 7739
14
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
15
 (HPO:0000505) Visual impairment 297 / 7739
16
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
17
 (HPO:0000479) Abnormality of the retina Occasional [Orphanet] 74 / 7739
18
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
19
 (HPO:0000512) Abnormal electroretinogram 61 / 7739
20
 (HPO:0000580) Pigmentary retinopathy 49 / 7739
21
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
22
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
23
 (HPO:0000556) Retinal dystrophy 65 / 7739
24
 (HPO:0000369) Low-set ears 372 / 7739
25
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
26
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
27
 (HPO:0001270) Motor delay 322 / 7739
28
 (HPO:0001251) Ataxia 413 / 7739
29
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
30
 (HPO:0001249) Intellectual disability 1089 / 7739
31
 (HPO:0001337) Tremor Occasional [Orphanet] 200 / 7739
32
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
33
 (HPO:0002251) Aganglionic megacolon Occasional [Orphanet] 78 / 7739
34
 (HPO:0000864) Abnormality of the hypothalamus-pituitary axis Occasional [Orphanet] 23 / 7739
35
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
36
 (HPO:0001161) Hand polydactyly Occasional [Orphanet] 71 / 7739
37
 (HPO:0001829) Foot polydactyly Occasional [Orphanet] 41 / 7739
38
 (HPO:0003468) Abnormality of the vertebrae Occasional [Orphanet] 77 / 7739
39
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
40
 (HPO:0001651) Dextrocardia Occasional [Orphanet] 38 / 7739
41
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
42
 (HPO:0002871) Central apnea 10 / 7739
43
 (HPO:0002793) Abnormal pattern of respiration Very frequent [Orphanet] 26 / 7739
44
 (HPO:0002104) Apnea Very frequent [Orphanet] 106 / 7739
45
 (HPO:0002876) Episodic tachypnea 6 / 7739
46
 (HPO:0002790) Neonatal breathing dysregulation 7 / 7739
47
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
48
 (HPO:0002334) Abnormality of the cerebellar vermis Very frequent [Orphanet] 137 / 7739
49
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
50
 (HPO:0011933) Elongated superior cerebellar peduncle 6 / 7739
51
 (HPO:0100951) Enlarged fossa interpeduncularis 4 / 7739
52
 (HPO:0001425) Heterogeneous 132 / 7739
53
 (HPO:0002419) Molar tooth sign on MRI 27 / 7739
54
 (HPO:0002536) Abnormal cortical gyration Occasional [Orphanet] 72 / 7739
55
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
56
 (HPO:0001320) Cerebellar vermis hypoplasia 57 / 7739
57
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
58
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: