Global Variome shared LOVD

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

Phenotype #0000162050 Individual ID 00213596 Associated disease CMYO4A;CFTD Phenotype details mild proximal weakness involving trunk, shoulder and hip girdle, minimal involvement of facial and neck muscles, no progression, reflexes absent apart from ankle jerks (1/4), high-arched palate; walk-2y; run-2y Diagnosis/Initial congenital fibre type disproportion Inheritance Familial, autosomal dominant Diagnosis/Definite CFTD Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Minttu Marttila Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2013-08-28 14:17:25 +02:00 (CEST) Date last edited 2013-08-31 16:51:49 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.