Phenotype #0000340294

Individual ID 00451632
Associated disease MSUD1B
Diagnosis/Initial Maple syrup urine disease
Diagnosis/Definite Maple syrup urine disease, type Ib
Phenotype details Mild intellectual disability, scoliosis, clubfoot
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis 00y00m12d
Age/Onset 00y00m01d
Phenotype/Onset -
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 19:56:36 +02:00 (CEST)
Date last edited 2024-06-18 16:12:59 +02:00 (CEST)

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