14q24.1q24.3 microdeletion syndrome
ORPHA:401935· ICD-10 Q93.5
Definition
14q24.1q24.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Unknown
- Age of onset
- Neonatal