has material basis in germline mutation in KANSL1 hereditary disease Koolen-de Vries syndrome https://www.malacards.org/card/koolen_de_vries_syndrome NORD:91169 KdVS Koolen de Vries syndrome MONDO:0012496 Orphanet:96169 A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior. MEDGEN:355853 microdeletion 17Q21.31 syndrome microdeletion 17q21.31 syndrome KANSL1-related intellectual disability syndrome chromosome 17q21.31 deletion syndrome chromosome 17q21.31 microdeletion syndrome GARD:0010727 Editor note: DOID classifies as non-syndromic but we classify as syndromic Koolen-De Vries syndrome UMLS:C1864871 KDVS 17q21.31 deletion syndrome chromosome 17Q21.31 deletion syndrome OMIM:610443 Koolen-DE Vries syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability autosomal dominant non-syndromic intellectual disability