Phenotype #0000145740
| Individual ID |
00185609 |
| Associated disease |
L2HGA |
| Phenotype details |
developmental delay; epilepsy; cereballar ataxia; no macrocephaly; no extrapyramidal signs; behavioral problems; no loss of milestones |
| Diagnosis/Initial |
L2HGA |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
L2HGA |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
9m |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Gajja Salomons |
| Database submission license |
No license selected |
| Created by |
Gajja Salomons |
| Date created |
2016-01-05 14:59:57 +01:00 (CET) |
| Date last edited |
N/A |
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