Congenital microcoria
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MIOSIS, CONGENITAL MCOR Congenital miosis |
| Number of Symptoms | 6 |
| OrphanetNr: | 566 |
| OMIM Id: |
156600
|
| ICD-10: |
|
| UMLs: |
C1303009 |
| MeSH: |
C537550 |
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Iridogoniodysgenesis
-Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease Nonsyndromic developmental defect of the eye -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0000616) | Miosis | 11 / 7739 | ||||
|
|
(HPO:0000501) | Glaucoma | rare [HPO:skoehler] | 180 / 7739 | |||
|
|
(HPO:0000545) | Myopia | 286 / 7739 | ||||
|
|
(HPO:0008345) | Hypoplasia of the iris dilator muscle | 1 / 7739 | ||||
|
|
(OMIM) | Small pupil | 4 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|