Ring chromosome 4
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 4 |
| OrphanetNr: | 1447 |
| OMIM Id: |
|
| ICD-10: |
Q93.2 |
| UMLs: |
C0265407 C2931556 |
| MeSH: |
C537636 |
| MedDRA: |
|
| Snomed: |
81678004 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
|
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Ring chromosome
-Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
|
|
(HPO:0002997) | Abnormality of the ulna | Occasional [Orphanet] | 75 / 7739 | |||
|
|
(HPO:0002818) | Abnormality of the radius | Frequent [Orphanet] | 96 / 7739 | |||
|
|
(HPO:0009380) | Aplasia of the fingers | Very frequent [Orphanet] | 51 / 7739 | |||
|
|
(HPO:0040065) | Abnormal morphology of bones of the upper limbs | Occasional [Orphanet] | 25 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|