Disease #07183 (NEDSJL (neurodevelopmental disorder with seizures and joint laxity), OMIM:621302)

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Official abbreviation	NEDSJL
Name	neurodevelopmental disorder with seizures and joint laxity
OMIM ID	621302
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	RNU5B-1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2025-09-30 18:00:59 +02:00 (CEST)
Date last edited	N/A

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