Coffin-Siris syndrome 6

Term ID

DOID:0080297

Synonyms

Definition

A Coffin-Siris syndrome that is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies and that has_material_basis_in heterozygous mutation in the ARID2 gene on chromosome 12q12. https://pubmed.ncbi.nlm.nih.gov/28124119/

References

• MIM:617808

Ontology

Human Disease   ( DOID:0080297 )