Phenotype #0000290634
| Individual ID |
00397502 |
| Associated disease |
CMT |
| Phenotype details |
see paper; motor delay (HP:0001270), optic nerve hypoplasia (HP:0000609), distal upper limb muscle atrophy (HP:0007149), distal lower limb muscular atrophy (HP:0008944), upper limb muscle weakness (HP:0003484), lower limb muscle weakness (HP:0007340); no deep tendon reflexes (HP:0001284), normal pinprick sensation (-HP:0007328), vibration sense reduced to elbows/ankles (HP:0002495), normal position sense (-HP:0002070), no linm ataxia, no pyramidal signs (-HP:0007256), positive Romberg sign (HP:0002403), steppage gait (HP:0003376), ataxic gait (HP:0002066), pes cavus (HP:0001761); 8y-sensorineural hearing loss (HP:0000407), hearing aids; mild hand tremor (HP:0002378), muscle cramps (HP:0003394), urinary incontinence (HP:0000020); demyelinating neuropathy; absent brainstem auditory evoked potentials; ... |
| Diagnosis/Initial |
Charcot-Marie-Tooth disease |
| Inheritance |
Isolated (sporadic) |
| Diagnosis/Definite |
- |
| Age/Examination |
15y (15 years) |
| Age/Diagnosis |
- |
| Age/Onset |
<02y |
| Phenotype/Onset |
motor delay (HP:0001270), optic nerve hypoplasia (HP:0000609) |
| Protein |
- |
| Owner name |
Farina Kemper |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Farina Kemper |
| Date created |
2021-12-22 15:15:02 +01:00 (CET) |
| Date last edited |
2021-12-27 19:01:50 +01:00 (CET) |
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