Phenotype #0000017612
| Individual ID |
00019890 |
| Associated disease |
ID |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Inheritance |
Unknown |
| Phenotype details |
Severe ID. Epilepsy (tonic-clonic seizures), myokymia. Normal height, head circumference -2 SD. Broad based walking pattern. Narrow long face, prominent supraorbital ridges, long nose and philtrum, thin upper lip, hypodontia, long fingers and toes and narrow thorax. |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Marianne Vos (LOVD-team) |
| Database submission license |
No license selected |
| Created by |
Marianne Vos (LOVD-team) |
| Date created |
2014-09-15 10:46:22 +02:00 (CEST) |
| Date last edited |
2014-11-08 16:11:21 +01:00 (CET) |
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