Disease #05945 (NEDHND (neurodevelopmental disorder with hypotonia, neuropathy, and deafnes (NEDHND)), OMIM:617519)

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Official abbreviation	NEDHND
Name	neurodevelopmental disorder with hypotonia, neuropathy, and deafnes (NEDHND)
OMIM ID	617519
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	SPTBN4
Associated tissues	-
Disease features	-
Remarks	-
Date created	2021-05-28 14:33:58 +02:00 (CEST)
Date last edited	N/A

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