Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
Synonyms: 10p12p11 microdeletion syndrome | Del(10)(p11.21p12.31) | Deletion 10p11.21p12.31 | Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion | Monosomy 10p11.21p12.31
A rare genetic syndromic intellectual disability characterized by developmental delay hypotonia speech delay mild to moderate intellectual disability abnormal behavior (autistic aggressive hyperactive) and dysmorphic facial features including synophrys or thick eyebrows deep set eyes bulbous nasal tip and full cheeks. Congenital heart and brain anomalies visual and hearing impairment are also common.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion?
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