Phenotype #0000351804
| Individual ID |
00466441 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
NEDSID |
| Phenotype details |
see paper; ..., mother history of miscarriage, birth Caesarean section; birth weight 2722g (-0.4 SD); height 159.5cm (-1.4 SD), weight 69.8kg (+1.5 SD), BMI 27.4 (+1.4 SD), OFC 56cm (+0.5 SD); intellectual disability, learning difficulties; global developmental delay; delayed speech delayed language development; motor delay; behavioral abnormality; no sleep disturbance; attention deficit hyperactivity disorder, short attention span, hears voices telling to do things and seeing things; seizures, benign focal onset seizures in early childhood; no hypotonia; no morphological abnormalities central nervous system; deficit in phonologic short-term memory( due to anxiety?); EEG abnormal; no joint hypermobility; no abnormality extremities; craniosynostosis; no abnormality digestive system; facial dysmorphisms, tall protruding forehead, receded anterior hairline, downslanted palpebral fissures, cupped ear, low-set ears, prominent chin; recurrent otitis media; recurrent pneumonia; myopia; astigmatism; easy fatigability |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
16y6m (16 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 |
2025-09-05 12:24:33 +02:00 (CEST) |
| Date last edited |
N/A |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
