Phenotype #0000310231
| Individual ID |
00418943 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
MRD62 |
| Phenotype details |
normal pregnancy; birth 39w, weight 3140g, OFC 34cm; weight 14.8kg (P25-50), height 99.5cm (P50-75), OFC 53cm (P98); delayed motor mevelopment,26m-walked, waddling gait, very unsteady for several months; delayed hand skills; delayed language development, few single words, currently nonverbal; Yes; language regression; no motor regression; autism; hyperactive sensitive to high-pitched noises loves playing with water head banging to fall asleep; no abnormal movements; hypotonia; no epilepsy; MRI incomplete inversion left hippocampus, asymmetric dilatation lateral ventricles, white matter volume loss, thin corpus callosum; no ophthalmological anomalies; normal hearing; normal skin; normal shape face; normal eyes; normal nose; normal philtrum; high arched palate; normal chin; normal ears; joint laxity; normal hands/feet; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; allergy to legumes; no genital malformations; |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
3y6m (3 years, 6 months) |
| Age/Diagnosis |
- |
| Age/Onset |
8m |
| 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 |
2022-10-13 19:59:42 +02:00 (CEST) |
| Date last edited |
N/A |
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