OBO ID: DOID:0112370
Term Name: Coffin-Siris syndrome 12 Search Ontology:
Synonyms:
  • CSS12
Definition: A Coffin-Siris syndrome characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity that has_material_basis_in heterozygous mutation in the BICRA gene on chromosome 19q13.33. https://pubmed.ncbi.nlm.nih.gov/33232675/
References:
Ontology: Human Disease   ( DOID:0112370 )
Relationships
is a type of:
OTHER Coffin-Siris syndrome 12 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
BICRA Coffin-Siris syndrome 12 619325
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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