19p13.12 microdeletion syndrome
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.
MONDO:0016897
partial deletion of the short arm of chromosome 19
is_a
Chromosome19p13.12 microdeletion
related
Del(19)(p13.12)
exact
monosomy 19p13.12
exact