OBO ID: DOID:0112367
Term Name: Coffin-Siris syndrome 8 Search Ontology:
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:
OTHER Coffin-Siris syndrome 8 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SMARCC2 Coffin-Siris syndrome 8 618362
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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