19p13.12 microdeletion syndrome

A newly described syndrome characterised by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. It has been reported in 6 patients to date. Facial dysmorphism includes brachycephaly, anteverted nares and ear malformations. Cardiac defects and abnormal behaviour characterised by auto and hetero-aggressivity and hyperactivity can be observed. This interstitial microdeletion was identified by comparative genomic hybridisation microarray and its size is variable.

SNOMEDCT_US