1. Diseases
  2. 16p13.2 microdeletion syndrome

16p13.2 microdeletion syndrome

Disease Export to PDF
Name:
16p13.2 microdeletion syndrome
Description:
A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors.
ORPHAcode:
500055
Synonyms:
Del(16)(p13.2)
Monosomy 16p13.2
XREF(s):
Orphanet
Analyte(s):
USP7
Created:
13 May 2019 - 01:02
Changed:
01 May 2022 - 06:55