8p inverted duplication/deletion syndrome

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Synonyms: Invdupdel(8p) | Inverted 8p duplication/deletion syndrome

A rare chromosomal anomaly clinically characterized by mild to severe intellectual disability severe developmental delay (psychomotor and speech development) hypotonia with tendency to later develop progressive hypertonia and characteristic facial features. The main congenital anomalies associated include central nervous system (CNS) malformations such as hypoplasia/agenesis of the corpus callosum (80%) skeletal abnormalities such as scoliosis/kyphosis or dislocated hips (60%) and congenital heart defects (25%).

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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8p inverted duplication/deletion syndrome?

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