neutropenia, severe congenital, 10, autosomal recessive
MONDO:0957809Mondo
Findings
No curated finding names neutropenia, severe congenital, 10, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
7 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.
- AnemiaHPOHP:0001903
- 1 of 1 reported patient
- Anorectal abscessHPOHP:0033150
- 1 of 1 reported patient · Infantile onset
- Bone marrow arrest at the promyelocytic stageHPOHP:0033607
- 1 of 1 reported patient
- Decreased total neutrophil countHPOHP:0001875
- 1 of 1 reported patient
- Dysplastic granulopoesisHPOHP:0012136
- 1 of 1 reported patient
- Increased total monocyte countHPOHP:0012311
- 1 of 1 reported patient
- ThrombocytopeniaHPOHP:0001873
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SRP68HGNC:11302
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2023
Where it sits
- A kind of