BIFID NOSE, AUTOSOMAL RECESSIVE
General Information (adopted from Orphanet):
Synonyms, Signs: |
MEDIAN FISSURE OF NOSE NOSE, MEDIAN CLEFT OF |
Number of Symptoms | 2 |
OrphanetNr: | |
OMIM Id: |
210400
|
ICD-10: |
|
UMLs: |
|
MeSH: |
|
MedDRA: |
|
Snomed: |
|
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal recessive inheritance [Omim] |
Age of onset: |
|
Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
|
(HPO:0011803) | Bifid nose | 12 / 7739 | ||||
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|
Additional Information:
Clinical Description OMIM |
Esser (1939) reported 4 affected sibs (2 males, 2 females) and an affected male first cousin. Boo-Chai (1965) described 3 cases in sibs of Asiatic Indian descent. A dominant form of bifid nose without hypertelorism (109740) has been ... |