20p13 microdeletion syndrome
ORPHA:313781· ICD-10 Q93.5
Definition
20p13 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.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal