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Human Disease

Coffin-Siris syndrome 12

Term ID
DOID:0112370
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
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Genes Involved
Zebrafish Models