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19p13.12 microdeletion syndrome
What is 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.
Other condition names
Del(19)(p13.12)
Monosomy 19p13.12
Inheritance type
Not applicable, Unknown
Prevalence
Worldwide: <1 in 1,000 000
Age of Onset
Infancy
Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on
"https://www.orphadata.com"
. Data version 1.3.16 / 4.1.7.