Phenotype #0000339382

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00450321
Associated disease	MSUD1A
Phenotype details	Microcephaly, intellectual disability, inappropriate laughter, optic nerve atrophy, atrial septal defect, congenital hip dysplasia
Diagnosis/Initial	Maple syrup urine disease
Diagnosis/Definite	Maple syrup urine disease, type Ib
Inheritance	Familial, autosomal recessive
Age/Examination	00y01m (1 month)
Age/Onset	-
Phenotype/Onset	-
Age/Diagnosis	00y01m
Protein	-
Owner name	Miriam Erandi Reyna-Fabián
Database submission license
Created by	Miriam Erandi Reyna-Fabián
Date created	2024-05-24 21:37:14 +02:00 (CEST)
Date last edited	2024-05-25 09:45:15 +02:00 (CEST)

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