Joubert syndrome with renal defect

General Information (adopted from Orphanet):

Synonyms, Signs: JS-R
Number of Symptoms 43
OrphanetNr: 220497
OMIM Id: 609583
611560
614424
ICD-10: Q04.3
Q61.5
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: Familial cystic renal disease
 -Rare genetic disease
 -Rare renal disease
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
Syndrome with a cerebellar malformation as major feature
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000083) Renal insufficiency Occasional [Orphanet] 232 / 7739
2
 (HPO:0000090) Nephronophthisis 42 / 7739
3
 (HPO:0000112) Nephropathy Very frequent [Orphanet] 92 / 7739
4
 (HPO:0000276) Long face Frequent [Orphanet] 109 / 7739
5
 (HPO:0002553) Highly arched eyebrow Occasional [Orphanet] 92 / 7739
6
 (HPO:0002084) Encephalocele Occasional [Orphanet] 70 / 7739
7
 (HPO:0000341) Narrow forehead Frequent [Orphanet] 96 / 7739
8
 (HPO:0000426) Prominent nasal bridge Occasional [Orphanet] 121 / 7739
9
 (HPO:0000202) Oral cleft Occasional [Orphanet] 120 / 7739
10
 (HPO:0000463) Anteverted nares Occasional [Orphanet] 305 / 7739
11
 (HPO:0000571) Hypometric saccades 10 / 7739
12
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
13
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
14
 (HPO:0000657) Oculomotor apraxia Very frequent [Orphanet] 54 / 7739
15
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
16
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
17
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
18
 (HPO:0002194) Delayed gross motor development 37 / 7739
19
 (HPO:0100543) Cognitive impairment 230 / 7739
20
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
21
 (HPO:0001251) Ataxia 413 / 7739
22
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
23
 (HPO:0002251) Aganglionic megacolon Occasional [Orphanet] 78 / 7739
24
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
25
 (HPO:0001337) Tremor Occasional [Orphanet] 200 / 7739
26
 (HPO:0000864) Abnormality of the hypothalamus-pituitary axis Occasional [Orphanet] 23 / 7739
27
 (HPO:0001161) Hand polydactyly Occasional [Orphanet] 71 / 7739
28
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
29
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
30
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
31
 (HPO:0002793) Abnormal pattern of respiration Very frequent [Orphanet] 26 / 7739
32
 (HPO:0002104) Apnea Very frequent [Orphanet] 106 / 7739
33
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
34
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
35
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
36
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
37
 (HPO:0011933) Elongated superior cerebellar peduncle 6 / 7739
38
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
39
 (HPO:0002419) Molar tooth sign on MRI 27 / 7739
40
 (HPO:0002404) Thickened superior cerebellar peduncle 4 / 7739
41
 (HPO:0002334) Abnormality of the cerebellar vermis Very frequent [Orphanet] 137 / 7739
42
 (HPO:0002536) Abnormal cortical gyration Occasional [Orphanet] 72 / 7739
43
 (HPO:0001320) Cerebellar vermis hypoplasia 57 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: