Phenotype #0000338723
| Individual ID |
00449549 |
| Associated disease |
NDD |
| Diagnosis/Initial |
developmental delay, intellectual disability, dysmorphic features |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., umbilical cord around neck at birth, forceps-assisted delivery, torticollis; developmental delay and/or intellectual disability; delayed speech, delayed language; behavioral disturbances; no hypotonia; focal seizures, epileptiform discharges in the right central region; brain MRI/CTmild thinning corpus callosum, mild diffuse cerebral volume loss; dextrocardia, common atrium, CAVC defect, IAA, patent ductus arteriosus; hypospadias, undescended testes, chordee; jejunal atresia, midline liver; down-slanting palpebral fissures, flattened nasal bridge; unknown coagulopathy; spleen on right; polysplenia syndrome |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
8y10m (8 years, 10 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 |
2024-04-22 10:35:23 +02:00 (CEST) |
| Date last edited |
N/A |
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