Joubert syndrome 3

General Information (adopted from Orphanet):

Synonyms, Signs: JBTS3
Number of Symptoms 35
OrphanetNr:
OMIM Id: 608629
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
23870701 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Joubert syndrome with ocular defect
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000800) Cystic renal dysplasia 31 / 7739
2
(HPO:0003774) Stage 5 chronic kidney disease 78 / 7739
3
(HPO:0000090) Nephronophthisis 42 / 7739
4
(HPO:0000113) Polycystic kidney dysplasia 75 / 7739
5
(HPO:0000431) Wide nasal bridge 290 / 7739
6
(HPO:0200096) Triangular-shaped open mouth 3 / 7739
7
(HPO:0000463) Anteverted nares 305 / 7739
8
(HPO:0002553) Highly arched eyebrow 92 / 7739
9
(HPO:0000505) Visual impairment 297 / 7739
10
(HPO:0000657) Oculomotor apraxia 54 / 7739
11
(HPO:0000508) Ptosis 459 / 7739
12
(HPO:0000580) Pigmentary retinopathy 49 / 7739
13
(HPO:0000512) Abnormal electroretinogram 61 / 7739
14
(HPO:0000496) Abnormality of eye movement 79 / 7739
15
(HPO:0000639) Nystagmus 555 / 7739
16
(HPO:0000556) Retinal dystrophy 65 / 7739
17
(HPO:0000369) Low-set ears 372 / 7739
18
(HPO:0001249) Intellectual disability 1089 / 7739
19
(HPO:0001270) Motor delay 322 / 7739
20
(HPO:0001251) Ataxia 413 / 7739
21
(HPO:0002790) Neonatal breathing dysregulation 7 / 7739
22
(HPO:0002871) Central apnea 10 / 7739
23
(HPO:0002876) Episodic tachypnea 6 / 7739
24
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
25
(HPO:0001324) Muscle weakness 859 / 7739
26
(HPO:0010547) Muscle flaccidity 466 / 7739
27
(HPO:0001252) Muscular hypotonia 990 / 7739
28
(OMIM) Lack of verbal communication 1 / 7739
29
(OMIM) Impaired expressive speech 1 / 7739
30
(OMIM) Epicanthal folds, mild 3 / 7739
31
(HPO:0002419) Molar tooth sign on MRI 27 / 7739
32
(OMIM) Deep posterior interpeduncular fossa 4 / 7739
33
(HPO:0001320) Cerebellar vermis hypoplasia 57 / 7739
34
(OMIM) Delayed walking 13 / 7739
35
(OMIM) Thick and elongated superior cerebellar peduncles 4 / 7739

Associated genes:

AHI1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Lagier-Tourenne et al. (2004) described 2 consanguineous families with Joubert syndrome, one Turkish and the other of Swiss origin; the latter was originally described by Boltshauser and Isler (1977). There were 5 affected members in the Turkish family ...
Molecular genetics OMIM Ferland et al. (2004) identified a locus associated with Joubert syndrome on 6q23.2-q23.3 and found 3 deleterious mutations in the gene encoding Abelson helper integration site-1 (AHI1; 608894.0001-608894.0003). AHI1 was found to be most highly expressed in brain, ...