Phenotype #0000340279

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00451603
Associated disease	SCOTD
Phenotype details	Attention deficit hyperactivity disorder, mild intellectual disability, seizures
Diagnosis/Initial	Succinyl CoA:3-oxoacid CoA transferase deficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Succinyl CoA:3-oxoacid CoA transferase deficiency
Age/Examination	-
Age/Diagnosis	02y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Miriam Erandi Reyna-Fabián
Database submission license
Created by	Miriam Erandi Reyna-Fabián
Date created	2024-06-13 00:16:48 +02:00 (CEST)
Date last edited	2024-06-18 16:11:49 +02:00 (CEST)

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