Phelan-McDermid syndrome
ORPHA:48652· ICD-10 Q93.5
Definition
A rare genetic neurodevelopmental disorder characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.
- Prevalence
- Unknown
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal