16p13.2 microdeletion syndrome
Name: |
16p13.2 microdeletion syndrome
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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.
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ORPHAcode: |
500055
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Synonyms: |
Del(16)(p13.2)
Monosomy 16p13.2
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
01 May 2022 - 06:55
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