4p16.3 microduplication syndrome
Findings
No curated finding names 4p16.3 microduplication syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0019873), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
4 names
Resolves to: 4p16.3 microduplication syndrome
- Also called
- distal duplication 4pdistal trisomy 4ptelomeric duplication 4ptrisomy 4pter