immunodeficiency-centromeric instability-facial anomalies syndrome 3
Findings
No curated finding names immunodeficiency-centromeric instability-facial anomalies syndrome 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the CDCA7 gene.
Definition from the Mondo Disease Ontology (MONDO:0014828), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
20 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.
- Recurrent infectionsHPOHP:0002719
- 5 of 5 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 4 of 5 reported patients
- Motor delayHPOHP:0001270
- 2 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 5 reported patients
- Abnormal B cell morphologyHPOHP:0002846
- 0 of 5 reported patients
- AgammaglobulinemiaHPOHP:0004432
- Conductive hearing impairmentHPOHP:0000405
Show the remaining 8
- Hypoplastic ischiaHPOHP:0003175
- HypospadiasHPOHP:0000047
- Intrauterine growth retardationHPOHP:0001511
- Low-set earsHPOHP:0000369
- MicrocephalyHPOHP:0000252
- PolydactylyHPOHP:0010442
- Short noseHPOHP:0003196
- StrabismusHPOHP:0000486
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.
- CDCA7HGNC:14628
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · ClinGen · Autosomal recessive · 2026
Where it sits
Other names
3 names
Resolves to: immunodeficiency-centromeric instability-facial anomalies syndrome 3
- Also called
- CDCA7 immunodeficiency-centromeric instability-facial anomalies syndromeimmunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in CDCA7immunodeficiency-centromeric instability-Facial anomalies syndrome type 3