ARACHNOID CYSTS, INTRACRANIAL
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 5 |
| OrphanetNr: | |
| OMIM Id: |
207790
|
| ICD-10: |
|
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
|
|
(HPO:0000252) | Microcephaly | 832 / 7739 | ||||
|
|
(HPO:0000256) | Macrocephaly | 298 / 7739 | ||||
|
|
(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
|
(HPO:0100702) | Arachnoid cyst | 15 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|