neutropenia, severe congenital, 9, autosomal dominant
MONDO:0030726Mondo
Findings
No curated finding names neutropenia, severe congenital, 9, 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
- Congenital onset · Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
6 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.
- Myeloid maturation arrestHPOHP:0410253
- 10 of 10 reported patients
- CataractHPOHP:0000518
- 2 of 10 reported patients
- SeizureHPOHP:0001250
- 2 of 10 reported patients
- SplenomegalyHPOHP:0001744
- 2 of 10 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 10 reported patients
- 3-Methylglutaconic aciduriaHPOHP:0003535
- 0 of 5 reported patients
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.
- CLPBHGNC:30664
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
- A kind of
Other names
1 name
Resolves to: neutropenia, severe congenital, 9, autosomal dominant
- Also called
- SCN9