Phenotype #0000210503
| Individual ID |
00275904 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
SNIBCPS |
| Phenotype details |
global developmental delay; walk-1y2m; fine motor delay; first words-2y8m; speech short sentences; received speech/language therapy; Receptive language better than speech production; Severe intellectual disability; no autism/autistic features; no ADHD/ADD; always pleasant in behaviour; normal weight; normal height; no macrocephaly, no microcephaly; MRI-brain thin corpus callosum; no hypotonia; no epilepsy, no seizures; mild unsteady gait; high forehead; widely spaced eyes; normal teeth; normal palate; no neonatal issues; normal vision; normal hearing; normal heart; normal kidneys; no male genital abnormalities; no hernias; no skeletal anomalies, no joint anomalies; |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
8y6m (8 years, 6 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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