Phenotype #0000210498
| Individual ID |
00275899 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
SNIBCPS |
| Phenotype details |
global developmental delay; walk-1y10m; fine motor delay; first words-1y2m; speech sentences; received speech/language therapy; no formal diagnosis besides globally delayed, sentences are mostly intelligible; developmental delay; no autism/autistic features; no ADHD/ADD; No major behavior problems, sometimes struggles with emotions and gets upset/frustrated; normal weight; normal height; macrocephaly; MRI-brain cortical abnormalities suggestive for cortical dysgenesis, mildly widened CSF spaces; wide CSF spaces; hypotonia; no epilepsy, no seizures; no; broad forehead; no widely spaced eyes; normal teeth; normal palate; no neonatal issues; normal vision; normal hearing; normal heart; normal kidneys; no hernias; hyperlaxity in elbows, ankles, and knees; One café au lait spot |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
6y7m (6 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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