Individual ID |
00404077 |
Associated disease |
CMT4H |
Phenotype details |
54-y women with progressive weakness and wasting of both upper and lower limbs, trophic changes, stocking and glove hypesthesia, deep sensory loss and pes cavus. Nerve conduction velocity study showed demyelinating neuropathy. |
Diagnosis/Initial |
Autosomal recessive Hereditary sensorimotor neuropathy |
Inheritance |
Familial, autosomal recessive |
Diagnosis/Definite |
CMT4H |
Age/Examination |
54y (54 years) |
Age/Diagnosis |
- |
Age/Onset |
35y |
Phenotype/Onset |
- |
Protein |
- |
Owner name |
Sherifa Ahmed Hamed |
Database submission license |
Creative Commons Attribution-ShareAlike 4.0 International |
Created by |
Sherifa Ahmed Hamed |
Date created |
2022-02-25 23:16:39 +01:00 (CET) |
Date last edited |
2022-03-03 10:21:20 +01:00 (CET) |