Sweeney-Cox syndrome
MONDO:0060592Mondo
Findings
No curated finding names Sweeney-Cox syndrome 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
HPO, annotations 2026-09-02
Features
49 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.
- Bilateral cryptorchidismHPOHP:0008689
- 1 of 1 reported patient
- Broad nasal tipHPOHP:0000455
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- HypertelorismHPOHP:0000316
- 2 of 2 reported patients
- Prominent metopic ridgeHPOHP:0005487
- 2 of 2 reported patients
- Upper eyelid colobomaHPOHP:0000636
- 2 of 2 reported patients
- 2-4 finger cutaneous syndactylyHPOHP:0010709
- 1 of 2 reported patients
- 2-5 finger cutaneous syndactylyHPOHP:0005650
- 1 of 2 reported patients
- 2-5 toe syndactylyHPOHP:0010715
- 1 of 2 reported patients
- Anal atresiaHPOHP:0002023
- 1 of 2 reported patients
- AspleniaHPOHP:0001746
- 1 of 2 reported patients
- Bilateral talipes equinovarusHPOHP:0001776
- 1 of 2 reported patients
Show the remaining 37
- BrachycephalyHPOHP:0000248
- 1 of 2 reported patients
- Broad neckHPOHP:0000475
- 1 of 2 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 1 of 2 reported patients
- Choanal atresiaHPOHP:0000453
- 1 of 2 reported patients
- Crumpled earHPOHP:0009901
- 1 of 2 reported patients
- Cupped earHPOHP:0000378
- 1 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.
- TWIST1HGNC:12428
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · ClinGen · Autosomal dominant · 2021
Where it sits
- A kind of