AURICULOCONDYLAR SYNDROME 3

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr:
OMIM Id: 615706
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000278) Retrognathia 100 / 7739
2
 (HPO:0000293) Full cheeks 85 / 7739
3
 (HPO:0000347) Micrognathia 426 / 7739
4
 (HPO:0000193) Bifid uvula 66 / 7739
5
 (HPO:0000162) Glossoptosis 26 / 7739
6
 (HPO:0008513) Bilateral conductive hearing impairment rare [HPO:skoehler] 11 / 7739
7
 (HPO:0000402) Stenosis of the external auditory canal rare [HPO:skoehler] 22 / 7739
8
 (HPO:0008751) Laryngeal cleft 5 / 7739
9
 (HPO:0030022) Question mark ear 2 / 7739
10
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: