warburg-cinotti syndrome
MONDO:0032579Mondo
Findings
No curated finding names warburg-cinotti syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
35 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.
- Narrow noseHPOHP:0000460
- 6 of 6 reported patients
- Narrow palpebral fissureHPOHP:0045025
- 5 of 5 reported patients
- Visual impairmentHPOHP:0000505
- 3 of 4 reported patients
- Joint swellingHPOHP:0001386
- 4 of 6 reported patients
- Long faceHPOHP:0000276
- 4 of 6 reported patients
- Thin skinHPOHP:0000963
- 4 of 6 reported patients
- Osteolytic defects of the phalanges of the handHPOHP:0009771
- 3 of 5 reported patients
- Posteriorly rotated earsHPOHP:0000358
- 3 of 5 reported patients
- Underdeveloped nasal alaeHPOHP:0000430
- 3 of 6 reported patients
- Conductive hearing impairmentHPOHP:0000405
- 2 of 5 reported patients
- Hypoplasia of the ear cartilageHPOHP:0100720
- 2 of 5 reported patients
- High palateHPOHP:0000218
- 2 of 6 reported patients
Show the remaining 23
- PneumothoraxHPOHP:0002107
- 2 of 6 reported patients
- Retinal dystrophyHPOHP:0000556
- 1 of 3 reported patients
- Wrist flexion contractureHPOHP:0001239
- 2 of 6 reported patients
- Atresia of the external auditory canalHPOHP:0000413
- 1 of 5 reported patients
- CholesteatomaHPOHP:0009797
- 1 of 5 reported patients
- Ankle flexion contractureHPOHP:0006466
- 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.
- DDR2HGNC:2731
- Strong · G2P · Autosomal dominant · 2025
- Moderate · ClinGen · Autosomal dominant · 2026
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2019
- Limited · Illumina · Autosomal dominant · 2019
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019
Where it sits
- A kind of