neutropenia-monocytopenia-deafness syndrome
MONDO:0017100Mondo
Findings
No curated finding names neutropenia-monocytopenia-deafness syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Neutropenia-monocytopenia-deafness syndrome is characterized by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections.
Definition from the Mondo Disease Ontology (MONDO:0017100), read 2026-09-29. CC BY 4.0.
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal macrophage morphologyHPOHP:0004311
- Very frequent (80% to 99% of cases)
- Abnormality of neutrophilsHPOHP:0001874
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Very frequent (80% to 99% of cases)
- Abnormality of immune system physiologyHPOHP:0010978
- Frequent (30% to 79% of cases)
Where it sits
- A kind of