BRANCHIOOTIC SYNDROME 3

General Information (adopted from Orphanet):

Synonyms, Signs: BO SYNDROME 3
BOS3
Number of Symptoms 7
OrphanetNr:
OMIM Id: 608389
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:0002710) Commissural lip pit 10762556 IBIS 5 / 7739
2
(HPO:0009796) Branchial cyst 32 / 7739
3
(HPO:0007678) Lacrimal duct stenosis 8 / 7739
4
(HPO:0004467) Preauricular pit 10762556 IBIS 39 / 7739
5
(HPO:0000384) Preauricular skin tag 62 / 7739
6
(HPO:0000407) Sensorineural hearing impairment 10762556 IBIS 524 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM Ruf et al. (2004) located the SIX1, SIX4 (606342), and SIX6 (606326) genes, which act within a genetic network of EYA and PAX genes to regulate organogenesis, within a 33-Mb critical interval on chromosome 14q23. By direct sequencing ...