Disease #07182 (NEDHMS (neurodevelopmental disorder with hypotonia and gross motor and speech delay), OMIM:619639)

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Official abbreviation	NEDHMS
Name	neurodevelopmental disorder with hypotonia and gross motor and speech delay
OMIM ID	619639
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	UBE4A
Associated tissues	-
Disease features	-
Remarks	-
Date created	2025-09-26 10:57:48 +02:00 (CEST)
Date last edited	N/A

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