1p35.2 microdeletion syndrome
ORPHA:456298· ICD-10 Q93.5
Definition
A rare chromosomal anomaly characterized by an intrauterine and postnatal growth retardation, short stature, developmental delay, learning difficulties, hearing loss, hypermetropia, and a recognisable facial dysmorphism including prominent forehead, long, myopathic facies, fine eyebrows, small mouth and micrognathia.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Not applicable
- Age of onset
- Neonatal