Coffin-Siris syndrome 5

Term ID

DOID:0112368

Synonyms

• CSS5

Definition

A Coffin-Siris syndrome characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit that has_material_basis_in heterozygous mutation in the SMARCE1 gene on chromosome 17q21.2. (2)

References

• OMIM:616938

Ontology

Human Disease   ( DOID:0112368 )