Phenotype #0000357883

Individual ID 00473088
Associated disease neuropathy
Diagnosis/Initial hereditary neuropathy
Diagnosis/Definite -
Phenotype details onset 5y with lower muscle weakness & foot drop; Difficulty heel & tip-toe walking; Abnormality of gait, sensory ataxia; Distal lower muscle atrophy & weakness due to neuropathy; Atrophy of thenar due to neuropathy; Pes cavus; Positive Romberg test; EMG-NCV: chronic sensorimotor polyneuropathy.
Inheritance Unknown
Age/Examination 34y (34 years)
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.