Disease #06116 (NEDHELS;DYSEIDD (neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures (DYSEIDD)), OMIM:617171)

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Official abbreviation	NEDHELS;DYSEIDD
Name	neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures (DYSEIDD)
OMIM ID	617171
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	DEAF1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2021-12-10 23:20:41 +01:00 (CET)
Date last edited	2024-02-02 17:36:56 +01:00 (CET)

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