Phenotype #0000340372

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Global Variome, with Curator vacancy

Individual ID	00451713
Associated disease	CTLN1
Phenotype details	hypotonia, neurological impairment, lethargy, coma, died neonatal period
Diagnosis/Initial	-
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	2024-07-03 10:52:13 +02:00 (CEST)
Date last edited	N/A

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