Microtia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 2 |
| OrphanetNr: | 83463 |
| OMIM Id: |
128800
600674 607842 |
| ICD-10: |
Q17.2 |
| UMLs: |
|
| MeSH: |
C537772 |
| MedDRA: |
10027555 |
| Snomed: |
35045004 |
Prevalence, inheritance and age of onset:
| Prevalence: | 13 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant Autosomal recessive Not applicable [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Pinnae and external auditory canal anomaly
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
|
|
(HPO:0000598) | Abnormality of the ear | 98 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|