Helsmoortel-Van der Aa syndrome
ORPHA:404448· ICD-10 Q87.0
Definition
A rare neurodevelopmental disorder characterized by intellectual disability (ID), autistic features, gastrointestinal problems, hypotonia, delayed speech, behavioral and sleep problems, pain insensitivity, seizures, structural brain anomalies, dysmorphic features, and visual problems.
- Prevalence
- Unknown
- Inheritance
- Unknown
- Age of onset
- Childhood, Infancy