Phenotype #0000340298

Individual ID 00451637
Associated disease MSUD1A
Phenotype details Global developmental delay, Spasticity, Amblyopia
Diagnosis/Initial Maple syrup urine disease
Diagnosis/Definite Maple syrup urine disease, type II
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Onset -
Phenotype/Onset 03y06m
Age/Diagnosis 00y03m
Protein -
Owner name Miriam Erandi Reyna-Fabián
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Miriam Erandi Reyna-Fabián
Date created 2024-06-17 23:58:33 +02:00 (CEST)
Date last edited 2024-06-18 16:07:55 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.