13q12.3 microdeletion syndrome

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13q12.3 microdeletion syndrome

Synonyms: Del(13)(q12.3) | Monosomy 13q12.3

13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability speech delay postnatal microcephaly eczema or atopic dermatitis characteristic facial features (malar flattening prominent nose underdeveloped alae nasi smooth philtrum and thin vermillion of the upper lip) and reduced sensitivity to pain.

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 December 2023

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13q12.3 microdeletion syndrome?

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