Синдром мікроделеції 1p35.2
ORPHA:456298· ICD-10 Q93.5· 1p35.2 microdeletion syndrome
Визначення(English summary)
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.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Not applicable
- Вік початку
- Neonatal