Phenotype #0000187477
| Individual ID |
00248487 |
| Associated disease |
? |
| Diagnosis/Initial |
cerebral ventriculomegaly, limb contractures |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., limb contractures (3/3), hydrocephalus/dilated cerebral ventricles (3/4), small cerebellum (3/3), corpus callosum agenesis (1/3) |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2019-07-24 15:31:27 +02:00 (CEST) |
| Date last edited |
N/A |
|
|
