Global Variome shared LOVD

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

Phenotype #0000332761 Individual ID 00443420 Associated disease ? Diagnosis/Initial spinal muscular atrophy, lower extremity-predominant Diagnosis/Definite SMALED2A Phenotype details no ambulation, club feet, lower motor neuron deterioration symptoms Inheritance Familial, autosomal dominant Age/Examination 6y (6 years) Age/Diagnosis - Age/Onset 3y Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-11-26 13:31:49 +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.