Phenotype #0000332708
| Individual ID |
00443366 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
birth 37w, weight 2.6kg (10th), OFC 31 cm (below the 2nd); weight 18kg (1st, -.2.3SD), height 108cm (below the 1st), OFC 46cm (below the 1st); moderate global developmental delay/intellectual disability; no speech; 3y-sit; 4y-walk; squint; spasticity; spasticity in lower limbs; cerebellar ataxia; abnormal gait, broad based; no tremor; no head tremor; tics and tic-like vocalizations; no Parkinsonism; stooping of the body; no lateral flexion body; no scoliosis; no leg/foot dystonia; postural instability; no seizures; no aggression; no self-injury; no tantrum temper; no sleep disturbance; coarse face; no deep set eyes; no lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; no thin upper lip; no everted lower lip; no prognathia; Hand stereotipies, Hyperactive; MRI brain Agenesis of the anterior commissure, short midbrain, and inferior vermis hypoplasia |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
8y (8 years) |
| 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 |
2023-11-25 19:15:23 +01:00 (CET) |
| Date last edited |
N/A |
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