distal monosomy 12p https://github.com/monarch-initiative/mondo/issues/3664 https://www.malacards.org/card/distal_monosomy_12p UMLS:C4749581 12p13.33 microdeletion syndrome distal deletion 12p Distal monosomy 12p is a rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly. MEDGEN:1648932 Del(12)(p13.33) MONDO:0017229 GARD:0021078 distal monosomy type 12p Orphanet:280325 chromosome 12p deletion