Phenotype #0000340305

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00451644
Associated disease	MSUD1B
Diagnosis/Initial	Maple syrup urine disease
Diagnosis/Definite	Maple syrup urine disease, type Ib
Phenotype details	Severe intellectual disability, Seizures, Spasticity, Congenital hip dislocation.
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	00y01m
Age/Onset	-
Phenotype/Onset	-
Owner name	Miriam Erandi Reyna-Fabián
Database submission license
Created by	Miriam Erandi Reyna-Fabián
Date created	2024-06-20 20:04:42 +02:00 (CEST)
Date last edited	2024-06-28 09:59:38 +02:00 (CEST)

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