Anotia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 4 |
| OrphanetNr: | 93976 |
| OMIM Id: |
600674
|
| ICD-10: |
Q16.0 |
| UMLs: |
|
| MeSH: |
C537772 |
| MedDRA: |
10002654 |
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
|
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Inherited cancer-predisposing syndrome
-Rare genetic disease -Rare oncologic disease Pinnae and external auditory canal anomaly -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
|
|
(HPO:0008551) | Microtia | 98 / 7739 | ||||
|
|
(HPO:0009892) | Anotia | 8 / 7739 | ||||
|
|
(HPO:0001360) | Holoprosencephaly | 29 / 7739 | ||||
|
|
(OMIM) | Microtia-anotia (M-A) | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
Microtia-anotia (M-A) can occur either as an isolated defect or in association with other defects. Only in a minority of cases has a genetic or environmental cause been found; in these cases, M-A is usually part of a ... |