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
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)

Global Variome shared LOVD