Monosomy 13q14

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Synonyms: Del(13)(q14) | Deletion 13q14

Monosomy 13q14 is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 13 characterized by developmental delay variable degrees of intellectual disability retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly high and broad forehead prominent eyebrows thick anteverted ear lobes short nose with a broad nasal bridge and bulbous tip prominent philtrum large mouth with thin upper lip and thick everted lower lip). Other features reported include high birth weight macrocephaly pinealoma hepatomegaly inguinal hernia and cryptorchidism.

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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Monosomy 13q14?

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