Distal 17p13.3 microdeletion syndrome
Synonyms: Distal del(17)(p13.3 ) | Distal monosomy 17p13.3
Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation developmental delay mild intellectual disability macrocephaly mild facial dysmorphisms including prominent forehead hypertelorism thick upper and/or lower lip vermillion and structural abnormalities of the brain variably including white matter abnormalities prominent Virchow-Robin spaces Chiari I malformation corpus callosum hypoplasia but no lissencephaly.
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 April 2024
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Distal 17p13.3 microdeletion syndrome?
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