Phenotype #0000157448
| Individual ID |
00208838 |
| Associated disease |
GA1 |
| Inheritance |
Familial, autosomal recessive |
| Age/Onset |
13y |
| Diagnosis/Initial |
- |
| Age/Examination |
- |
| Diagnosis/Definite |
- |
| Age/Diagnosis |
16y |
| Phenotype/Onset |
- |
| Phenotype details |
Medical history: slightly delayed psychomotor devlopment (walking at 01y06m, language acquisition later than sisters) (HP:0011342); At 11y: difficulties at school (only primary education, professional training as hairdresser), later performed neuopsychological test showed normal IQ but slight difficulties in attention, execution and fine motor function; At age 13y: postural hand tremor (HP:0002378) (more marked on rigth side, accentuated by stress, only disturbed writing); At age 16y:mild left forearm postural dystonia, moderately increased deep tendon reflexes (HP:0006801), gait normal, head circumference normal, no nystagmus, no gaze palsy; At age 19y: tremor unchanged, oral dyskinesia (HP:0002310) and marked nasal voice (HP:0001611); MRI (T2): High bilateral signal in putamen, diffuse bilateral white matter lesions (mainly in frontal areas) |
| Protein |
- |
| Biochem |
GA(urine): 2,982mmol/mol creatinine; 3-OH-GA(urine): 415mmol/mol creatinine |
| Enzyme/Activity |
<0.05µmol/hour per g protein (fibroblasts) |
| Owner name |
Isabelle Rinke |
| Database submission license |
No license selected |
| Created by |
Isabelle Rinke |
| Date created |
2018-12-18 10:23:33 +01:00 (CET) |
| Date last edited |
N/A |
|
