Синдром мікроделеції 17q23.1q23.2
ORPHA:261279· ICD-10 Q93.5· 17q23.1q23.2 microdeletion syndrome
Визначення(English summary)
17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Not applicable, Unknown
- Вік початку
- Infancy, Neonatal