Coffin-Siris syndrome 7

Term ID

DOID:0112369

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. https://pubmed.ncbi.nlm.nih.gov/29429572/

References

• OMIM:618027

Ontology

Human Disease   ( DOID:0112369 )