Phenotype #0000060997
| Individual ID |
00065119 |
| Associated disease |
IOLOD |
| Phenotype details |
muscular hypotonia of the trunk (HP:0008936), dyskinesia of the limbs and trunk (HP:0100660), chorea (HP:0002072), ballismus (HP:0100248), orolingual dyskinesia(HP:0002310), drooling (HP:0002307), dysarthria (HP_0001260), no cognitive developmental delay (-HP_0001263) |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
- |
| Age/Examination |
13y (13 years) |
| Age/Diagnosis |
- |
| Age/Onset |
00y03m |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Pieter Klap |
| Database submission license |
No license selected |
| Created by |
Johan den Dunnen |
| Date created |
2016-10-11 09:12:16 +02:00 (CEST) |
| Date last edited |
N/A |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|