Disease #05966 (PRLTS1 (Perrault syndrome, type 1), OMIM:233400)

Global Variome shared LOVD

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

Official abbreviation	PRLTS1
Name	Perrault syndrome, type 1
OMIM ID	233400
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	HSD17B4
Associated tissues	-
Disease features	-
Remarks	-
Date created	2021-08-19 09:04:40 +02:00 (CEST)
Date last edited	2025-01-06 10:11:54 +01:00 (CET)

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