BRANCHIOOTORENAL SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: BOR2
Number of Symptoms 6
OrphanetNr:
OMIM Id: 610896
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000110) Renal dysplasia 44 / 7739
2
(HPO:0000083) Renal insufficiency 232 / 7739
3
(HPO:0011332) Hemifacial hypoplasia 2 / 7739
4
(HPO:0000384) Preauricular skin tag 62 / 7739
5
(HPO:0000365) Hearing impairment 539 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hoskins et al. (2007) reported 5 patients with a clinical diagnosis of BOR who carried heterozygous mutations in the SIX5 gene. One of the patients had bilateral dysplastic kidneys and a right preauricular tag but normal hearing. A ...
Molecular genetics OMIM Hoskins et al. (2007) identified 4 mutations in the SIX5 gene (600963) as a novel cause of BOR in 5 patients. The SIX5 gene was considered a good candidate for BOR owing to its similarity to SIX1 (601205), ...