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

• OMIM:619325

Ontology

Human Disease   ( DOID:0112370 )