Phenotype #0000340121

Individual ID 00451365
Associated disease MSUD1B
Diagnosis/Initial Maple syrup urine disease
Diagnosis/Definite Maple syrup urine disease, type Ib
Phenotype details Moderate intellectual disability, distal lower limb hypertrophy
Inheritance Familial, autosomal recessive
Age/Examination 08a07m
Age/Diagnosis 09y01m
Age/Onset 09y09m
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 2024-05-31 20:56:44 +02:00 (CEST)
Date last edited 2024-06-04 14:02:39 +02:00 (CEST)

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