Disease #05795 (CSS8 (Coffin-Siris syndrome, type 8 (CSS8)), OMIM:618362)

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Official abbreviation	CSS8
Name	Coffin-Siris syndrome, type 8 (CSS8)
OMIM ID	618362
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	SMARCC2
Associated tissues	-
Disease features	neurodevelopmental delay, mild to severe intellectual disability, profound speech delay, behavioral abnormalities, muscular hypotonia, feeding disorders in infancy, dysmorphic facial features
Remarks	-
Date created	2020-07-25 09:01:59 +02:00 (CEST)
Date last edited	2023-04-06 11:08:17 +02:00 (CEST)