Cataract, Hutterite type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 3 |
| OrphanetNr: | 98987 |
| OMIM Id: |
212500
|
| ICD-10: |
Q12.0 |
| UMLs: |
C2931791 |
| MeSH: |
C538286 |
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Non-syndromic congenital cataract
-Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0001118) | Juvenile cataract | 3 / 7739 | ||||
|
|
(HPO:0000519) | Congenital cataract | 73 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|