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

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)

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