Phenotype #0000297021
| Individual ID |
00404429 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
birth length 48.5 cm (-1.27 SD)birth length 48.5 cm (-1.27 SD), weight 2.82 kg (-1.55 SD), OFC 33.5 cm (-1.34 SD); height 97 cm (-2.56 SD), weight 16.5 kg (-0.87 SD), OFC 50.8 cm (-1.24 SD); epilepsy (controlled on Keppra), lower limb spasticity and diffuse hyperreflexia consistent with a diplegic cerebral palsy presentation; MRI persistent mildly delayed myelination for age.; Global developmental delays, first sat up at 24 months, started cruising at 5 y and cannot walk independently at 5 y, has been babbling since 15 months but does not have any words; epicanthal folds, otherwise normal; no feeding problems; has a café au lait macule and a slate gray nevus; no urogenital anomalies; no skeletal anomalies; no hearing loss; normal vision; normal haematopoiesis, normal iImmune functioning; |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
4y10m (4 years, 10 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 |
2022-03-02 10:20:20 +01:00 (CET) |
| Date last edited |
N/A |
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