immunodeficiency 94 with autoinflammation and dysmorphic facies
MONDO:0030681Mondo
Findings
No curated finding names immunodeficiency 94 with autoinflammation and dysmorphic facies yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance · Typified by somatic mosaicism
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
29 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.
- Anteverted naresHPOHP:0000463
- 1 of 1 reported patient
- AsthmaHPOHP:0002099
- 1 of 1 reported patient
- Avascular necrosisHPOHP:0010885
- 1 of 1 reported patient
- Cubitus valgusHPOHP:0002967
- 1 of 1 reported patient
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- 1 of 1 reported patient
- Deep philtrumHPOHP:0002002
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 1 reported patient
- Elevated circulating C-reactive protein concentrationHPOHP:0011227
- 1 of 1 reported patient
- Elevated circulating serum amyloid A concentrationHPOHP:0033332
- 1 of 1 reported patient
- FibromaHPOHP:0010614
- 1 of 1 reported patient
- HepatosplenomegalyHPOHP:0001433
- 1 of 1 reported patient
Show the remaining 17
- High palateHPOHP:0000218
- 1 of 1 reported patient
- HypertelorismHPOHP:0000316
- 1 of 1 reported patient
- HypertrichosisHPOHP:0000998
- 1 of 1 reported patient
- HypothyroidismHPOHP:0000821
- 1 of 1 reported patient
- Low-set earsHPOHP:0000369
- 1 of 1 reported patient
- LymphadenopathyHPOHP:0002716
- 1 of 1 reported patient
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.
- IL6STHGNC:6021
- Moderate · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: immunodeficiency 94 with autoinflammation and dysmorphic facies
- Also called
- IMD94