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19p13.12 microdeletion syndrome

ORPHA254346
Synonym(s) Del(19)(p13.12)
Monosomy 19p13.12
Prevalence <1 / 1 000 000
Inheritance Not applicable
or Unknown
Age of onset Infancy
Neonatal
ICD-10
  • Q93.5
OMIM -
UMLS -
MeSH -
MedDRA -

Summary

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.

It has been reported in 6 patients to date.

Facial dysmorphism includes brachycephaly, anteverted nares, and ear malformations. Cardiac defects and abnormal behavior characterized by auto- and hetero-aggressivity and hyperactivity can be observed.

This interstitial microdeletion was identified by comparative genomic hybridization (CGH) microarray and its size is variable.

Expert reviewer(s)

  • Dr Nicole MORICHON-DELVALLEZ

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