Phenotype #0000291699

Individual ID 00398595
Associated disease CMTX1
Phenotype details see paper; No pyramidal signs (-HP:0001288), No pyramidal signs (-HP:0001761), No pyramidal signs (-HP:0003484), No pyramidal signs (-HP:0007340), Upper limb amyotrophy (HP:0009129), No pyramidal signs (-HP:0001315), No pyramidal signs (-HP:0002378), No pyramidal signs (-HP:0002936), EMG abnormality (HP:0003457)
Diagnosis/Initial Charcot-Marie-Tooth disease
Inheritance Familial, X-linked recessive
Diagnosis/Definite CMTX1
Age/Examination 25y (25 years)
Age/Diagnosis -
Age/Onset >20y
Phenotype/Onset Lower limb amyotrophy (HP:0007210)
Protein -
Owner name Farina Kemper
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Farina Kemper
Date created 2022-01-06 22:07:14 +01:00 (CET)
Date last edited 2022-01-18 17:04:11 +01:00 (CET)

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