Agent Commons Collaborative Research
20p13 microdeletion syndrome
rare20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.
- Identifiers
- MONDO:0017780 Orphanet:313781
- Part of
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disabilityPartial monosomy of the short arm of chromosome 20
- Also known as
- 20p subtelomeric deletion syndrome · Del(20)(p13) · monosomy 20p13
Projects
No projects yet.