Phenotype #0000356531
| Individual ID |
00471722 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental disorder |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., intrauterine growth restriction; birth 36+3w (induced delivery due to the intrauterine growth restriction); neonatal feeding difficulties/poor feeding; birth length 41.5cm (P1, -2.3 SD), weight 1590g (<P1, -3.1 SD), OFC 29.5cm (P2, -2.0 SD); length 89cm (-2.5/-3 SD), weight 9.9kg (-3.5 SD), OFC 46.5cm (<P1, -2.5 SD); global developmental delay; delayed speech development; delayed motor development; mild intellectual disability; no developmental regression ; secondary; normal behavior; no autism; 10m-sit; 31m-walk; no seizure; MRI brain normal; normal coordination; normal muscle tone; protruding metopic suture, upslanted palpabral fissures, bilateral epicanthus, thin lower lip; trigonocephalic aspect; severe feeding difficulties, poor weight gain; no hearing loss; strabism; no nystagmus; normal cardiovascular system; normal spine morphology; delayed temporary teeth eruption shoulder dimples |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
3y10m (3 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 |
2026-01-03 11:36:42 +01:00 (CET) |
| Date last edited |
N/A |
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