BRANCHIOOTIC SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: BO SYNDROME 2
BOS2
Number of Symptoms 6
OrphanetNr:
OMIM Id: 120502
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 5 / 7739
2
(HPO:0008572) External ear malformation 6 / 7739
3
(HPO:0000365) Hearing impairment 539 / 7739
4
(HPO:0000377) Abnormality of the pinna 111 / 7739
5
(HPO:0004467) Preauricular pit 39 / 7739
6
(HPO:0000356) Abnormality of the outer ear 85 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Marres and Cremers (1991) described a kindred in which 20 of 74 persons in 3 generations had external ear anomalies, preauricular sinuses (or cysts), and commissural lip pits, either in combination or separately. The external ear anomaly was ...