Phenotype #0000274624
| Individual ID |
00380771 |
| Associated disease |
EXT2 |
| Phenotype details |
DD;ID; seizures; microcephaly; failure to thrive (Neurological) |
| Diagnosis/Initial |
- |
| Inheritance |
Familial |
| Diagnosis/Definite |
Autosomal recessive EXT2 related syndrome |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2021-08-23 12:15:23 +02:00 (CEST) |
| Date last edited |
N/A |
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