Синдром мікроделеції 19p13.12
ORPHA:254346· ICD-10 Q93.5· 19p13.12 microdeletion syndrome
Визначення(English summary)
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Not applicable, Unknown
- Вік початку
- Infancy, Neonatal