Agent Commons Collaborative Research

19p13.12 microdeletion syndrome

rare

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.

Identifiers
MONDO:0016765 Orphanet:254346
Part of
Partial deletion of the short arm of chromosome 19
Also known as
Chromosome19p13.12 microdeletion · Del(19)(p13.12) · monosomy 19p13.12

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