Phenotype #0000340178

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00451428
Associated disease	CTLN1
Phenotype details	see paper; ..., hyperammonemia; hyperammonemic, developmental delay; now normal cognitive development
Diagnosis/Initial	hyperammonemic, developmental delay
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CTLN1
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-06-03 12:28:30 +02:00 (CEST)
Date last edited	N/A

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