Phenotype #0000070612
| Individual ID |
00092276 |
| Associated disease |
EPM1A |
| Inheritance |
Familial, autosomal recessive |
| Phenotype details |
neurodegenerative phenotype, neurotransmitter abnormalities; seizures responded to Levocarbidopa and 5OH-tryptophan |
| Diagnosis/Initial |
- |
| Age/Examination |
- |
| Diagnosis/Definite |
- |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
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