Phenotype #0000357769

Individual ID 00472974
Associated disease CMT
Phenotype details onset 5y with difficulty walking and frequent falls; Difficulty walking, running, climbing steps and rising from seated position; Distal muscle weakness & wasting, leg>arm; Laxity in fingers, wrist & elbows; Foot drop, bilateral; Postural deformities in feet & ankles; Abnormal gait; Respiratory problem; Thenar & hypothenar muscle atrophy; EMG-NCV: chronic sensorimotor demyelinating neuropathy with superimposed axonal damage.
Diagnosis/Initial Charcot-Marie-Tooth disease
Inheritance Unknown
Diagnosis/Definite -
Age/Examination 12y (12 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2026-03-06 17:24:40 +01:00 (CET)
Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.