Term Name: Snijders Blok-Campeau syndrome
Synonyms: SNIBCPS
Definition: An autosomal dominant intellectual developmental disorder characterized by global developmental delay with delayed speech acquisition, impaired intellectual development of variable severity, and hypotonia that has_material_basis_in heterozygous mutation in the CHD3 gene on chromosome 17p13.
Ontology: Human Disease [DOID:0070668]   ( DOID:0070668 )

Relationships
is a type of: autosomal dominant intellectual developmental disorder