Joubert syndrome 6

General Information (adopted from Orphanet):

Synonyms, Signs: JBTS6
Number of Symptoms 26
OrphanetNr:
OMIM Id: 610688
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
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0003774) Stage 5 chronic kidney disease 78 / 7739
2
(HPO:0000090) Nephronophthisis 42 / 7739
3
(HPO:0000496) Abnormality of eye movement 79 / 7739
4
(HPO:0000657) Oculomotor apraxia 54 / 7739
5
(HPO:0000546) Retinal degeneration 61 / 7739
6
(HPO:0000618) Blindness 124 / 7739
7
(HPO:0000567) Chorioretinal coloboma 26 / 7739
8
(HPO:0001249) Intellectual disability 1089 / 7739
9
(HPO:0001251) Ataxia 413 / 7739
10
(HPO:0001263) Global developmental delay 853 / 7739
11
(HPO:0001395) Hepatic fibrosis 67 / 7739
12
(HPO:0001408) Bile duct proliferation 22 / 7739
13
(HPO:0005957) Breathing dysregulation 6 / 7739
14
(HPO:0001252) Muscular hypotonia 990 / 7739
15
(HPO:0001324) Muscle weakness 859 / 7739
16
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
17
(HPO:0010547) Muscle flaccidity 466 / 7739
18
(OMIM) Deep posterior interpeduncular fossa 4 / 7739
19
(OMIM) Microcysts 1 / 7739
20
(HPO:0002419) Molar tooth sign on MRI 27 / 7739
21
(HPO:0001320) Cerebellar vermis hypoplasia 57 / 7739
22
(HPO:0100951) Enlarged fossa interpeduncularis 4 / 7739
23
(HPO:0011933) Elongated superior cerebellar peduncle 6 / 7739
24
(OMIM) Thick and elongated superior cerebellar peduncles 4 / 7739
25
(HPO:0002404) Thickened superior cerebellar peduncle 4 / 7739
26
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

TMEM67;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Joubert syndrome is an autosomal recessive disorder presenting with psychomotor delay, hypotonia, ataxia, oculomotor apraxia, and neonatal breathing abnormalities. Neuroradiologically, Joubert syndrome is characterized by peculiar malformation of the midbrain-hindbrain junction known as the 'molar tooth sign' (MTS) ...
Clinical Description OMIM Baala et al. (2007) identified a genetically distinct form of Joubert syndrome designated JBTS6. Two of the patients had been described by Romano et al. (2006). One, a 14-year-old girl, was severely handicapped and presented with hypotonia, severe ...
Molecular genetics OMIM Baala et al. (2007) found mutation in the TMEM67 gene (609884) in compound heterozygosity or homozygosity in patients with Joubert syndrome. Mutations in the TMEM67 gene also result in type 3 Meckel syndrome (MKS3; 609884). Thus 1 form ...