Global Variome shared LOVD

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

Phenotype #0000337073 Individual ID 00447879 Associated disease XMPMA;EDMD6 Phenotype details Positional foot deformity, Vocal cord paresis, Scoliosis, Hyperreflexia, Scapular winging, Abnormality of the face, Hip contracture, Knee contracture, Retrognathia, Dystonia Diagnosis/Initial - Inheritance Familial, X-linked recessive Diagnosis/Definite - Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2024-01-30 11:18:27 +01:00 (CET) Date last edited 2024-01-31 10:37:01 +01:00 (CET)

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