19p13.12 microdeletion syndrome
19p13.12 microdeletion syndrome
Definition
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.
Also known as Del(19)(p13.12), monosomy 19p13.12 — per MONDO