1p36 deletion syndrome
ORPHA:1606· ICD-10 Q93.5
Definition
A rare chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, poor/absent speech, and prenatal onset growth deficiency.
- Prevalence
- 1-5 / 10 000
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Antenatal, Neonatal