OCULORENOCEREBELLAR SYNDROME
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ORC SYNDROME |
| Number of Symptoms | 10 |
| OrphanetNr: | |
| OMIM Id: |
257970
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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: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000112) | Nephropathy | 92 / 7739 | ||||
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(HPO:0000096) | Glomerulosclerosis | 11 / 7739 | ||||
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(HPO:0000546) | Retinal degeneration | 61 / 7739 | ||||
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(HPO:0001264) | Spastic diplegia | 24 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001266) | Choreoathetosis | 57 / 7739 | ||||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
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(OMIM) | Retinal vessel loss | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Absent cerebellar granular layer | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
In a Mennonite sibship of 11 children, with consanguineous parents, Hunter et al. (1982) found 3 boys and 2 girls with a syndrome of profound mental retardation, choreoathetosis and worsening spastic diplegia, progressive tapetoretinal degeneration with loss of ... |