Congenital ptosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 2 |
| OrphanetNr: | 91411 |
| OMIM Id: |
178300
300245 |
| ICD-10: |
Q10.0 |
| UMLs: |
C0266573 |
| MeSH: |
|
| MedDRA: |
10015996 |
| Snomed: |
268163008 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant X-linked recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Ptosis
-Rare eye disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0007970) | Congenital ptosis | 7 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|