B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
MONDO:0012243Mondo
Findings
No curated finding names B-cell immunodeficiency, distal limb anomalies, and urogenital malformations 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 · Fetal onset
HPO, annotations 2026-09-02
Features
98 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.
- 2-5 toe syndactylyHPOHP:0010715
- 1 of 1 reported patient
- 3-4 toe cutaneous syndactylyHPOHP:6000648
- 2 of 2 reported patients
- 4-5 toe cutaneous syndactylyHPOHP:6000503
- 1 of 1 reported patient
- Absent circulating B cellsHPOHP:0030252
- 8 of 8 reported patients
- Absent nippleHPOHP:0002561
- 1 of 1 reported patient
- Anteriorly placed anusHPOHP:0001545
- 1 of 1 reported patient
- Autoimmune thrombocytopeniaHPOHP:0001973
- 1 of 1 reported patient
- Bilateral cryptorchidismHPOHP:0008689
- 1 of 1 reported patient
- Bilateral single transverse palmar creasesHPOHP:0007598
- 1 of 1 reported patient
- CamptodactylyHPOHP:0012385
- 1 of 1 reported patient
- Chronic furunculosisHPOHP:0011132
- 1 of 1 reported patient
- Clinodactyly of the 5th fingerHPOHP:0004209
- 2 of 2 reported patients
Show the remaining 86
- Congenital megalourethraHPOHP:0030723
- 1 of 1 reported patient
- Decreased circulating IgG concentrationHPOHP:0004315
- 6 of 6 reported patients
- Decreased circulating specific pneumococcal antibody concentrationHPOHP:0012476
- 1 of 1 reported patient
- EEG abnormalityHPOHP:0002353
- 1 of 1 reported patient
- Episodic vomitingHPOHP:0002572
- 1 of 1 reported patient
- EpispadiasHPOHP:0000039
- 2 of 2 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.
- TOP2BHGNC:11990
- Strong · Ambry Genetics · Autosomal dominant · 2024
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2025
- Moderate · ClinGen · Autosomal dominant · 2021
- Moderate · Illumina · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
- Also called
- B-cell immunodeficiency-limb anomaly-urogenital malformation syndromeBILU syndromeHoffman syndrome