Phenotype #0000340195

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00451458
Associated disease	argininemia
Phenotype details	Hypotonia, spasticity, short stature, decreased body weight, moderate intellectual disability, Attention deficit hyperactivity disorder
Diagnosis/Initial	Argininemia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Argininemia
Age/Examination	-
Age/Diagnosis	04y04m
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Miriam Erandi Reyna-Fabián
Database submission license
Created by	Miriam Erandi Reyna-Fabián
Date created	2024-06-06 22:10:37 +02:00 (CEST)
Date last edited	2024-06-24 17:02:20 +02:00 (CEST)

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