Joubert syndrome 10

General Information (adopted from Orphanet):

Synonyms, Signs: JBTS10
Number of Symptoms 11
OrphanetNr:
OMIM Id: 300804
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked
23870701 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Joubert syndrome with orofaciodigital defect
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare neurologic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002002) Deep philtrum 19800048 IBIS 42 / 7739
2
 (HPO:0000431) Wide nasal bridge 19800048 IBIS 290 / 7739
3
 (HPO:0000510) Rod-cone dystrophy 19800048 IBIS 266 / 7739
4
 (HPO:0000369) Low-set ears 19800048 IBIS 372 / 7739
5
 (HPO:0001249) Intellectual disability 19800048 IBIS 1089 / 7739
6
 (HPO:0100259) Postaxial polydactyly 19800048 IBIS 85 / 7739
7
 (HPO:0008872) Feeding difficulties in infancy 19800048 IBIS 153 / 7739
8
 (HPO:0001510) Growth delay 19800048 IBIS 295 / 7739
9
 (HPO:0002719) Recurrent infections 19800048 IBIS 107 / 7739
10
 (HPO:0002419) Molar tooth sign on MRI 19800048 IBIS 27 / 7739
11
 (HPO:0001419) X-linked recessive inheritance 189 / 7739

Associated genes:

OFD1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009).

For a phenotypic description and ...
Clinical Description OMIM Coene et al. (2009) reported a large kindred in which 8 males had severe to profound mental retardation and findings consistent with Joubert syndrome segregating in an X-linked recessive pattern. Three had died of recurrent infections. Five patients ...
Molecular genetics OMIM By linkage analysis followed by candidate gene sequencing of a family with X-linked recessive Joubert syndrome, Coene et al. (2009) identified a hemizygous 7-bp deletion in exon 21 of the OFD1 gene (300170.0008). A different truncating mutation in ...