Global Variome shared LOVD

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

Phenotype #0000340306 Individual ID 00451645 Associated disease MSUD2 Diagnosis/Initial Maple syrup urine disease Diagnosis/Definite Maple syrup urine disease, type II Phenotype details Global developmental delay, Spasticity Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis 00y05m Age/Onset - Phenotype/Onset - Owner name Miriam Erandi Reyna-Fabián Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Miriam Erandi Reyna-Fabián Date created 2024-06-20 20:15:28 +02:00 (CEST) Date last edited 2024-06-28 09:35:30 +02:00 (CEST)

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