Phenotype #0000296669

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 InternationalCreative Commons License
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)

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