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.
MONDO:0022174
chromosome 12p deletion
is_a
12p13.33 microdeletion syndrome
exact
Del(12)(p13.33)
exact
distal deletion 12p
exact
distal monosomy type 12p
exact