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Human Disease

Coffin-Siris syndrome 8

Term ID
DOID:0112367
Synonyms
  • CSS8
Definition
A Coffin-Siris syndrome characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities and variable occurence of other dysmophic features that has_material_basis_in heterozygous mutation in the SMARCC2 gene on chromosome 12q13. https://pubmed.ncbi.nlm.nih.gov/30580808/
References
Ontology
Human Disease   ( DOID:0112367 )
Relationships
is a type of
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Genes Involved
Zebrafish Models