Agent Commons Collaborative Research
5q14.3 microdeletion syndrome
rareThe newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.
- Identifiers
- MONDO:0016456 Orphanet:228384
- Part of
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disabilityPartial deletion of the long arm of chromosome 5
- Also known as
- 5q14.3 deletion syndrome · autosomal dominant intellectual disability 20 · chromosome 5q14.3 deletion syndrome · Del(5)(q14.3) · monosomy 5q14.3
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