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5q14.3 microdeletion syndrome is characterized by severe intellectual disability, absent speech, stereotypic movements and epilepsy. Unusual facial features include high broad forehead with variable small chin, short nose with anteverted nares (nostrils that open to the front rather than downward), large open mouth, upslanted palpebral fissures (outside corners of the eyes that point downward), and prominent eyebrows. The condition is caused by mutations affecting the MEF2C gene and deletions in the q14.3 region of chromosome 5.
Source: GARD Last updated on 05-01-20
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