4p16.3 microduplication syndrome
From BugSigDB
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.
- Aliases
- 4p16.3 microduplication syndrome
- Distal duplication 4p
- distal duplication 4p
- Distal trisomy 4p
- distal trisomy 4p
- Telomeric duplication 4p
- telomeric duplication 4p
- Trisomy 4pter
- trisomy 4pter
