neutropenia, severe congenital, 8, autosomal dominant
MONDO:0032899Mondo
Findings
No curated finding names neutropenia, severe congenital, 8, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
10 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.
- Autistic behaviorHPOHP:0000729
- 2 of 2 reported patients
- Bone marrow arrest at the promyelocytic stageHPOHP:0033607
- 3 of 3 reported patients
- Decreased total neutrophil countHPOHP:0001875
- 3 of 3 reported patients · Congenital onset
- Exocrine pancreatic insufficiencyHPOHP:0001738
- 2 of 3 reported patients
- Feeding difficulties in infancyHPOHP:0008872
- 2 of 3 reported patients · Infantile onset
- Short statureHPOHP:0004322
- 2 of 3 reported patients
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 1 of 3 reported patients
- SteatorrheaHPOHP:0002570
- 1 of 3 reported patients
- Abnormal circulating immunoglobulin concentrationHPOHP:0010701
- 0 of 2 reported patients
- Global developmental delayHPOHP:0001263
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.
- SRP54HGNC:11301
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2018
Where it sits
- A kind of