Koolen-de Vries syndrome

Definition

A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior.

Also known as chromosome 17q21.31 deletion syndrome, KANSL1-related intellectual disability syndrome, KDVS, Koolen de Vries syndrome, Koolen-De Vries syndrome, microdeletion 17q21.31 syndrome — per MONDO

Also identified as

• OMIM 610443 per MONDO
• Orphanet 96169 per MONDO
• UMLS C1864871 per MONDO