Phenotype #0000245286
| Individual ID |
00326823 |
| Associated disease |
? |
| Diagnosis/Initial |
ataxia, spasticity, demyelinating neuropathy |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., height 116 cm (10%), weight 19.9 kg (20%), OFC 47 cm (~3%); mild/moderate intelletual disability, 7y-IQ £55; 2.5y-walk; language development initially normal, can use simple sentences, dysarthria; ambulatory, spastic gait; needs assistance with all activities of daily living; clearly present, progressive appendicular hypertonia/spasticity; deep tendon reflexes arms, 3+; legs, 4+ (crossed adductor reflex, sustained ankle clonus); extensor plantar responses; muscle strength not tested formally, no obvious weakness; detailed sensory exam not possible, light touch preserved; cerebellar testing mild intention tremor and dysmetria, unable to balance on one foot or perform tandem gait; 12m-seizures, head drop attacks, refractory to medications and ketogenic diet; 5y-MRI brain normal; 7y-EMG/NCS combined axonal and demyelinating polyneuropathy of both motor and sensory nerves |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
8y (8 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2021-01-16 10:11:03 +01:00 (CET) |
| Date last edited |
N/A |
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