Phenotype #0000332704
| Individual ID |
00443362 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
birth at term; weight 60.1 kg (14th), height 158 cm (below the 1st), OFC 54cm (23rd); moderate global developmental delay/intellectual disability; delayed speech; 4y-sit; 5y-walk; limited upgaze; spasticity; spasticity in lower limbs; cerebellar ataxia; Ataxic with dystonia in right leg; tremor; head tremor dystonic; hand tremor (at rest, posture, movement); no tics, no tic-like vocalizations; Parkinsonism; upper limb dystonia on hand pronation-supination test; stooping of the body; lateral flexion body; leg/foot dystonia; urinary incontinence; no seizures; EEG abnormal awake/drowsy, suggestive of neuronal dysfunction; aggression; no self-injury; tantrum temper; no sleep disturbance; no coarse face; no lateral upslanting palpebral fissures; no broad nose, no depressed nasal bridge; no thin upper lip; no everted lower lip; prognathia; Premature Aging, Night blindness, Urinary incontinence, developmental delay,breathing differently; MRI brain Short midbrain and small inferior cerebellar vermis |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
19y (19 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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