Phenotype #0000355300

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	00470155
Associated disease	MTDPS
Diagnosis/Initial	Alpert syndrome
Diagnosis/Definite	MTDPS4A
Phenotype details	see paper; ..., epilepsy; hepatopathy
Inheritance	Familial, autosomal recessive
Age/Examination	5m
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-11-27 18:16:07 +01:00 (CET)
Date last edited	N/A

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