Phenotype #0000297022
| Individual ID |
00404430 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
birth 38w length 44 cm (-2.5 SD)birth 38w length 44 cm (-2.5 SD), weight 2.86 kg (-0.33 SD); height 151 cm (-0.2 SD), weight 39 kg (-0.49 SD), OFC 52 cm (-1.89 SD); No focal abnormalities; MRI normal; Delay noted at 1.5y of age, speech delay. Motor development (planning and coordination) delayed. Autism is most limiting. IQ test not reliable; showed dysharmonic profile (verbal lower than performal; active vocabulary lower than passive); Short palpebral fissures, epicanthus, high hair line, preauricular tag; Only motor delay; difficutlies with coordination of mouth movements; now on no lactose-gluten-glucose-carb diet -> improved contact and vocabulary; normal skin; no urogenital anomalies; no skeletal anomalies; no hearing loss; normal vision; normal haematopoiesis, normal iImmune functioning; Hypermobility; abnormal processing of stimuli; good effect of Sonrise therapy |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
12y6m (12 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 |
2022-03-02 10:20:20 +01:00 (CET) |
| Date last edited |
N/A |
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