Term Name: Coffin-Siris syndrome 7
Synonyms: CSS7
Definition: A Coffin-Siris syndrome characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails that has_material_basis_in heterozygous mutation in the DPF2 gene on chromosome 11q13.1.
Ontology: Human Disease [DOID:0112369]   ( DOID:0112369 )

Relationships
is a type of: Coffin-Siris syndrome