20p13 microdeletion syndrome

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20p13 microdeletion syndrome

Synonyms: 20p subtelomeric deletion syndrome | Del(20)(p13) | Monosomy 20p13

20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay mild to moderate intellectual disability epilepsy and unspecific dysmorphic signs. High palate delayed permanent tooth eruption hypoplastic fingernails clinodactyly and short fingers have also been reported.

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 September 2023.

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20p13 microdeletion syndrome?

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