Синдром дуплікації 22q11.2
ORPHA:1727· ICD-10 Q92.3· 22q11.2 duplication syndrome
Визначення(English summary)
A rare chromosomal anomaly characterized by an extremely variable clinical phenotype and may include heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal.
- Поширеність
- Unknown
- Успадкування
- Autosomal dominant
- Вік початку
- All ages