Синдром нейтропенії-моноцитопенії-глухоти
ORPHA:2690· ICD-10 D82.8· Neutropenia-monocytopenia-deafness syndrome
Визначення(English summary)
Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Unknown
- Вік початку
- Infancy, Neonatal