Phenotype #0000342229
| Individual ID |
00453571 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental disorder |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., no brain phneotype; no intellectual disability; no developmental delay; no hypotonia; no seizures; no motor problems; atrial septal defect; adrenal insufficiency, no neurodevelopmental findings, hypertension at birth |
| Inheritance |
Familial, autosomal dominant |
| Age/Examination |
2y9m (2 years, 9 months) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2024-09-10 17:46:49 +02:00 (CEST) |
| Date last edited |
N/A |
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