Term Name: Coffin-Siris syndrome 12
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.
Ontology: Human Disease [DOID:0112370]   ( DOID:0112370 )

Relationships
is a type of: Coffin-Siris syndrome