Phenotype #0000296574

Individual ID 00403906
Associated disease CMT4C
Phenotype details kyphoscliosis early in childhood.
progressive weakness and wasting of upper and lower limbs, marked in lower limbs.
Pes Cavus
nerve conduction velocity study showed demyelinating sensory neurpathy
Diagnosis/Initial Autosomal recessive Hereditary sensorimotor neuropathy
Inheritance Familial, autosomal recessive
Diagnosis/Definite CMT-4C
Age/Examination 48y (48 years)
Age/Diagnosis 32y
Age/Onset 28y
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 2022-02-24 21:03:05 +01:00 (CET)
Date last edited 2022-02-25 08:53:15 +01:00 (CET)

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