Diastematomyelia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 6 |
| OrphanetNr: | 1671 |
| OMIM Id: |
222500
|
| ICD-10: |
Q06.2 |
| UMLs: |
C0011999 |
| MeSH: |
|
| MedDRA: |
10012750 |
| Snomed: |
49351009 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
|
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Malformation of the neurenteric canal, spinal cord and column
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare neurologic disease |
Symptom Information:
|
|
(HPO:0000707) | Abnormality of the nervous system | 61 / 7739 | ||||
|
|
(HPO:0002650) | Scoliosis | Frequent [Orphanet] | 705 / 7739 | |||
|
|
(HPO:0011362) | Abnormal hair quantity | Frequent [Orphanet] | 92 / 7739 | |||
|
|
(HPO:0100563) | Diastomatomyelia | Very frequent [Orphanet] | 4 / 7739 | |||
|
|
(OMIM) | Divided spinal cord | 1 / 7739 | ||||
|
|
(OMIM) | Spinal cord dysraphism | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|