Phenotype #0000338728
| Individual ID |
00449554 |
| Associated disease |
NDD |
| Diagnosis/Initial |
developmental delay, intellectual disability, dysmorphic features |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., C-section due to maternal hypertension and failure to progress, maternal diabetes; developmental delay and/or intellectual disability; delayed speech, delayed language; no autism; attention deficit hyperactivity disorder; hypotonia; no seizure; brain MRI/CT normal; no cardiovascular anoalies; undescended testes; no gastrointestinal anomalies; no dysmorphic features; neonatal thrombocytopenia |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
9y (9 years) |
| 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 |
2024-04-22 10:35:23 +02:00 (CEST) |
| Date last edited |
N/A |
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