partial duplication of the short arm of chromosome 4 overgrowth syndrome 4p16.3 microduplication syndrome https://github.com/monarch-initiative/mondo/issues/3492 https://www.malacards.org/card/4p163_microduplication_syndrome distal trisomy 4p trisomy 4pter SCTID:726706008 MONDO:0019873 GARD:0019306 telomeric duplication 4p 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. distal duplication 4p UMLS:C4512053 MEDGEN:1387521 Orphanet:96072 obsolete_4p16.3 microduplication syndrome