Disease #06383 (NEDHIB (Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities), OMIM:618603)

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Official abbreviation	NEDHIB
Name	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
OMIM ID	618603
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	-
Phenotype entries for this disease	1
Associated with 1 gene	POLR2A
Associated tissues	-
Disease features	-
Remarks	-
Date created	2021-12-10 23:20:41 +01:00 (CET)
Date last edited	N/A

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