12p12.1 microdeletion syndrome

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12p12.1 microdeletion syndrome

Synonyms: Del(12)(p12.1) | Monosomy 12p12.1

A rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 12 characterized by intellectual disability global developmental delay with prominent language impairment behavioral abnormalities and mild facial dysmorphism (incl. frontal bossing downslanting palpebral fissures epicanthal folds broad depressed nasal bridge with bulbous nasal tip low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae scoliosis) strabismus optic nerve hypoplasia and brain malformations.

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 February 2024

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12p12.1 microdeletion syndrome?

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