OBO ID: DOID:0112372
Term Name: Coffin-Siris syndrome 11 Search Ontology:
Synonyms:
  • CSS11
Definition: A Coffin-Siris syndrome characterized by global developmental delay and impaired intellectual development associated with hypotonia, feeding difficulties, and variable dysmorphic features that has_material_basis_in heterozygous mutation in the SMARCD1 gene on chromosome 12q13.12. https://pubmed.ncbi.nlm.nih.gov/30879640/
References:
Ontology: Human Disease   ( DOID:0112372 )
Relationships
is a type of:
OTHER Coffin-Siris syndrome 11 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SMARCD1 Coffin-Siris syndrome 11 618779
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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