Oligocone trichromacy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Oligocone syndrome |
| Number of Symptoms | 2 |
| OrphanetNr: | 75378 |
| OMIM Id: |
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 14 cases [Orphanet] |
| Inheritance: |
Autosomal dominant Autosomal recessive [Orphanet] |
| Age of onset: |
Infancy Childhood Adolescent Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Retinal dystrophy
-Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0000512) | Abnormal electroretinogram | Very frequent [Orphanet] | 61 / 7739 | |||
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(HPO:0000613) | Photophobia | Frequent [Orphanet] | 158 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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