Phenotype #0000340273

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00451598
Associated disease	ACADSD
Phenotype details	Blue sclerae
Diagnosis/Initial	Acyl-CoA dehydrogenase, medium chain, deficiency of
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Acyl-CoA dehydrogenase, medium chain, deficiency of
Age/Examination	-
Age/Diagnosis	00y00m11d
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Miriam Erandi Reyna-Fabián
Database submission license
Created by	Miriam Erandi Reyna-Fabián
Date created	2024-06-12 19:25:16 +02:00 (CEST)
Date last edited	2024-06-24 17:11:22 +02:00 (CEST)

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