4p16.3 microduplication syndrome
Synonyms: Distal duplication 4p | Distal trisomy 4p | Telomeric duplication 4p | Trisomy 4pter
4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype principally characterized by psychomotor and language delay seizures and dysmorphic features such as high forehead with frontal bossing hypertelorism prominent glabella long narrow palpebral fissures low set ears and short neck. Eye abnormalities (glaucoma irregular iris pigmentation hyperopia) 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 April 2024
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4p16.3 microduplication syndrome?
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