agammaglobulinemia 9, autosomal recessive
MONDO:0030519Mondo
Findings
No curated finding names agammaglobulinemia 9, 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 · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
8 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.
- Absent circulating B cellsHPOHP:0030252
- 6 of 6 reported patients
- AgammaglobulinemiaHPOHP:0004432
- 6 of 6 reported patients
- Recurrent bacterial infectionsHPOHP:0002718
- 6 of 6 reported patients
- Eczematoid dermatitisHPOHP:0000964
- 2 of 6 reported patients
- Failure to thriveHPOHP:0001508
- 2 of 6 reported patients
- ThrombocytopeniaHPOHP:0001873
- 2 of 6 reported patients
- Seborrheic dermatitisHPOHP:0001051
- 1 of 6 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 1 of 6 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.
- SLC39A7HGNC:4927
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: agammaglobulinemia 9, autosomal recessive
- Also called
- AGM9