Phenotype #0000332725
| Individual ID |
00443383 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
birth weight 3kg (21st); weight 25kg (below the 1st), height 110cm (below the 1st), ; moderate global developmental delay/intellectual disability; able to talk; sit independently; not walking; no impaired smooth eye movements; no limited upgaze; no spasticity; no velocity dependent spasticity present; no spasticity in upper limbs; no spasticity in lower limbs; cerebellar ataxia; no upper limb ataxia; no tremor; no head tremor; no head tremor; no Parkinsonism; upper limb dystonia on hand pronation-supination test; stooping of the body; no lateral flexion body; no scoliosis; leg/foot dystonia; no postural instability; urinary incontinence; no orthostatic hypotension; no seizures; no autism; no aggression; no self-injury; tantrum temper; no sleep disturbance; lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; normal head CT |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
17y (17 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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