Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000346140 Individual ID 00457681 Associated disease CMT Phenotype details see paper; ..., infantile axonal Charcot-Marie-Tooth disease; delayed motor development,slowly-progressing distal muscle weakness with areflexia, foot deformities Diagnosis/Initial infantile axonal Charcot-Marie-Tooth disease Inheritance Familial, autosomal recessive Diagnosis/Definite MTPD2 Age/Examination 05y (5 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-11-16 09:24:39 +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.