Phenotype #0000270792
| Individual ID |
00375578 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
moderate, decreasing intellectual disability; speech delay; developmental delay; turricephaly; no hypotonia; no epilepsy; no spasticity; aggressive; pectus carinatum; thoracal kyphosis; long extremities |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
40y (40 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2021-06-11 18:02:38 +02:00 (CEST) |
| Date last edited |
N/A |
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