Phenotype #0000340307

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00451646
Associated disease	MTDPS9
Phenotype details	Severe intellectual disability, Developmental regression
Diagnosis/Initial	Elevated plasma acylcarnitine
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
Age/Examination	-
Age/Diagnosis	01y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Miriam Erandi Reyna-Fabián
Database submission license
Created by	Miriam Erandi Reyna-Fabián
Date created	2024-06-20 20:35:24 +02:00 (CEST)
Date last edited	2024-06-28 09:40:53 +02:00 (CEST)

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