Phenotype #0000339381

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00450320
Associated disease	IVA
Inheritance	Familial, autosomal recessive
Phenotype details	Delayed speech and language development, Neonatal sepsis, Metabolic acidosis, Deep palmar crease
Diagnosis/Initial	aciduria
Age/Examination	04y10m (4 years, 10 months)
Diagnosis/Definite	Isovaleric acidemia
Age/Diagnosis	05y05m
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Miriam Erandi Reyna-Fabián
Database submission license
Created by	Miriam Erandi Reyna-Fabián
Date created	2024-05-24 19:07:46 +02:00 (CEST)
Date last edited	2024-05-25 09:34:19 +02:00 (CEST)

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