Синдром мікроделеції 20p13
ORPHA:313781· ICD-10 Q93.5· 20p13 microdeletion syndrome
Визначення(English summary)
20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant, Not applicable
- Вік початку
- Infancy, Neonatal