Hao-Fountain syndrome due to 16p13.2 microdeletion
Name: |
Hao-Fountain syndrome due to 16p13.2 microdeletion
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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: |
Chromosome 16p13.2 deletion syndrome
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: |
22 Jun 2023 - 16:14
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