Phenotype #0000210490
| Individual ID |
00275891 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
SNIBCPS |
| Phenotype details |
global developmental delay; walk-1y10m; fine motor delay; first words-24m; speech three word sentences; received speech/language therapy; initially dfficulties with repeating words, good understanding; can now very well communicate his wishes; developmental delay; autistic features; no ADHD/ADD; open towards others, sometimes difficult behaviour with temper tantrums in stress, hand-flapping; normal weight; normal height; macrocephaly; MRI-brain normal; no wide CSF spaces; hypotonia; no epilepsy, no seizures; poor in motion transitions. Inward rotation of the feet when walking, slightly broad based; high forehead with frontal bossing; widely spaced eyes; normal teeth; high arched palate; no neonatal issues; normal vision; normal hearing; normal heart; orchidopexia performed; Hyperlaxity of all major joints; loves to eat, needs to be controlled by parents, intermittend hyperphosphatesia, |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
3y7m (3 years, 7 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 |
2020-01-20 21:55:37 +01:00 (CET) |
| Date last edited |
N/A |
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