Distal monosomy 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.

Also known as: 12p13.33 microdeletion syndrome, Del(12)(p13.33), distal deletion 12p, distal monosomy type 12p

0 clinical trials for this condition and its sub-types, 0 tagged with Distal monosomy 12p itself.