Phenotype #0000340122

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00451367
Associated disease	-
Phenotype details	Seizures, hyperammonemia, intellectual disability, abnormality of coagulation
Diagnosis/Initial	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
Age/Examination	-
Age/Diagnosis	00y00m01d
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Miriam Erandi Reyna-Fabián
Database submission license
Created by	Miriam Erandi Reyna-Fabián
Date created	2024-05-31 21:13:18 +02:00 (CEST)
Date last edited	2024-06-04 14:05:24 +02:00 (CEST)

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