Phenotype #0000210509
| Individual ID |
00275910 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
SNIBCPS |
| Phenotype details |
global developmental delay; walk-4y; fine motor delay; first words-4y; speech short sentences, hoarse voice; received speech/language therapy; Severe intellectual disability; no autism/autistic features; no ADHD/ADD; pleasant in behaviour; normal weight; normal height; no macrocephaly, no microcephaly; MRI-brain widening of CSF spaces; wide CSF spaces; hypotonia; no epilepsy, no seizures; delayed visual maturation; prominent forehead; widely spaced eyes; normal teeth; normal palate; no neonatal issues; hypermetropia, strabism, cerebral visual impairment; normal hearing; Atrial septal defect, Pulmonic valve stenosis; normal kidneys; no hernias; no skeletal anomalies, no joint anomalies; |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
9y6m (9 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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