Phenotype #0000340323

Individual ID 00451662
Associated disease MSUD1A
Phenotype details Global developmental delay
Diagnosis/Initial Maple syrup urine disease
Diagnosis/Definite MSUD1A: Maple syrup urine disease, type II
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Onset -
Phenotype/Onset -
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 2024-06-24 04:32:53 +02:00 (CEST)
Date last edited 2024-06-28 09:37:56 +02:00 (CEST)

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