Joubert syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: CPD IV
Classic Joubert syndrome
Pure Joubert syndrome
Joubert syndrome type A
Cerebelloparenchymal disorder IV
Joubert-Boltshauser syndrome
Number of Symptoms 73
OrphanetNr: 475
OMIM Id: 213300
610688
612291
614173
614424
614464
614615
614970
ICD-10: Q04.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic cerebellar malformation
 -Rare genetic disease
Joubert syndrome and related disorders
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease
Malformation of the cerebellar vermis
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000107) Renal cyst Rare [HPO:probinson] 126 / 7739
2
 (HPO:0000158) Macroglossia 119 / 7739
3
 (HPO:0011220) Prominent forehead 137 / 7739
4
 (HPO:0000341) Narrow forehead Frequent [Orphanet] 96 / 7739
5
 (HPO:0200096) Triangular-shaped open mouth 3 / 7739
6
 (HPO:0002553) Highly arched eyebrow Occasional [Orphanet] 92 / 7739
7
 (HPO:0000463) Anteverted nares Occasional [Orphanet] 305 / 7739
8
 (HPO:0002084) Encephalocele Occasional [Orphanet] 70 / 7739
9
 (HPO:0000202) Oral cleft Occasional [Orphanet] 120 / 7739
10
 (HPO:0000256) Macrocephaly 298 / 7739
11
 (HPO:0000276) Long face Frequent [Orphanet] 109 / 7739
12
 (HPO:0010808) Protruding tongue 28 / 7739
13
 (HPO:0000426) Prominent nasal bridge Occasional [Orphanet] 121 / 7739
14
 (HPO:0000286) Epicanthus 371 / 7739
15
 (HPO:0000567) Chorioretinal coloboma 26 / 7739
16
 (HPO:0000588) Optic nerve coloboma 27 / 7739
17
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
18
 (HPO:0000657) Oculomotor apraxia Very frequent [Orphanet] 54 / 7739
19
 (HPO:0007973) Retinal dysplasia Rare [HPO:probinson] 27 / 7739
20
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
21
 (HPO:0000570) Abnormality of saccadic eye movements 12 / 7739
22
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
23
 (HPO:0007772) Impaired smooth pursuit 21 / 7739
24
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
25
 (HPO:0000556) Retinal dystrophy 65 / 7739
26
 (HPO:0000369) Low-set ears 372 / 7739
27
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
28
 (HPO:0010828) Hemifacial spasm 3 / 7739
29
 (HPO:0000752) Hyperactivity 140 / 7739
30
 (HPO:0001249) Intellectual disability 1089 / 7739
31
 (HPO:0001337) Tremor Occasional [Orphanet] 200 / 7739
32
 (HPO:0001251) Ataxia 413 / 7739
33
 (HPO:0000718) Aggressive behavior 109 / 7739
34
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
35
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
36
 (HPO:0001263) Global developmental delay 853 / 7739
37
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
38
 (HPO:0002251) Aganglionic megacolon Occasional [Orphanet] 78 / 7739
39
 (HPO:0000742) Self-mutilation 27 / 7739
40
 (HPO:0000864) Abnormality of the hypothalamus-pituitary axis Occasional [Orphanet] 23 / 7739
41
 (HPO:0001829) Foot polydactyly Occasional [Orphanet] 41 / 7739
42
 (HPO:0007271) Occipital myelomeningocele Rare [HPO:probinson] 2 / 7739
43
 (HPO:0001162) Postaxial hand polydactyly 119 / 7739
44
 (HPO:0003468) Abnormality of the vertebrae Occasional [Orphanet] 77 / 7739
45
 (HPO:0001760) Abnormality of the foot 96 / 7739
46
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
47
 (HPO:0001161) Hand polydactyly Occasional [Orphanet] 71 / 7739
48
 (HPO:0001395) Hepatic fibrosis 67 / 7739
49
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
50
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
51
 (HPO:0001651) Dextrocardia Occasional [Orphanet] 38 / 7739
52
 (HPO:0002876) Episodic tachypnea 6 / 7739
53
 (HPO:0002104) Apnea Very frequent [Orphanet] 106 / 7739
54
 (HPO:0002871) Central apnea 10 / 7739
55
 (HPO:0002793) Abnormal pattern of respiration Very frequent [Orphanet] 26 / 7739
56
 (HPO:0002790) Neonatal breathing dysregulation 7 / 7739
57
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
58
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
59
 (HPO:0002419) Molar tooth sign on MRI 27 / 7739
60
 (HPO:0002195) Dysgenesis of the cerebellar vermis 2 / 7739
61
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
62
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
63
 (HPO:0002536) Abnormal cortical gyration Occasional [Orphanet] 72 / 7739
64
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
65
 (HPO:0002335) Agenesis of cerebellar vermis 25 / 7739
66
 (HPO:0002334) Abnormality of the cerebellar vermis Very frequent [Orphanet] 137 / 7739
67
 (HPO:0011933) Elongated superior cerebellar peduncle 6 / 7739
68
 (HPO:0003812) Phenotypic variability 129 / 7739
69
 (HPO:0100951) Enlarged fossa interpeduncularis 4 / 7739
70
 (HPO:0002365) Hypoplasia of the brainstem 41 / 7739
71
 (HPO:0001320) Cerebellar vermis hypoplasia 57 / 7739
72
 (HPO:0001425) Heterogeneous 132 / 7739
73
 (HPO:0002508) Brainstem dysplasia 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: