Phenotype #0000291702

Individual ID 00398615
Associated disease HSN2C
Phenotype details Peripheral neuropathy (HP:0009830), Distal muscle weakness (HP:0002460), Hearing impairment (HP:0000365), Decreased nerve conduction velocity (HP:0000762), Upper motor neuron dysfunction (HP:0002493)
Diagnosis/Initial CMT
Inheritance Familial, autosomal recessive
Diagnosis/Definite HSN2C
Age/Examination 67y (67 years)
Age/Diagnosis -
Age/Onset 45y
Phenotype/Onset Peripheral neuropathy (HP:0009830), Distal muscle weakness (HP:0002460), Hearing impairment (HP:0000365), Decreased nerve conduction velocity (HP:0000762), Upper motor neuron dysfunction (HP:0002493)
Protein -
Owner name Yvet den Hartog
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Yvet den Hartog
Date created 2022-01-07 11:43:08 +01:00 (CET)
Date last edited 2022-01-18 16:01:38 +01:00 (CET)

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