Disease #00643 (THMD5 (Thiamine metabolism dysfunction syndrome, type 5 (episodic encephalopathy type) (THMD-5)), OMIM:614458)

Global Variome shared LOVD

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Official abbreviation	THMD5
Name	Thiamine metabolism dysfunction syndrome, type 5 (episodic encephalopathy type) (THMD-5)
OMIM ID	614458
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	TPK1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

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