Phenotype #0000340297

Individual ID 00451636
Associated disease MSUD2
Diagnosis/Initial Maple syrup urine disease
Diagnosis/Definite Maple syrup urine disease, type II
Phenotype details Severe intellectual disability, Seizures, Opisthotonus
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis 01y04m
Age/Onset -
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 22:14:28 +02:00 (CEST)
Date last edited 2024-06-28 09:34:35 +02:00 (CEST)

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