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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