Search Ontology:
Human Disease

Coffin-Siris syndrome 11

Term ID
DOID:0112372
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
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