Phenotype #0000292393

Individual ID 00398738
Associated disease CMT
Phenotype details See paper;…, distal amyotrophy (HP:0003693); absent achilles reflex (HP:0003438);impaired pain sensation (HP:0007328); impaired vibration sensation in the lower limbs (HP:0002166); acute demyelinating polyneuropathy (HP:0007131)
Diagnosis/Initial Charcot-Marie-Tooth disease
Inheritance Familial, autosomal dominant
Diagnosis/Definite CMT
Age/Examination -
Age/Diagnosis >31y
Age/Onset 31y
Phenotype/Onset gait ataxia (HP:0002066); foot dorsiflexor weakness (HP:0009027)
Protein -
Owner name Maeve Soen
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Maeve Soen
Date created 2022-01-10 19:10:13 +01:00 (CET)
Date last edited 2022-01-18 16:24:51 +01:00 (CET)

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.