Klippel-Feil syndrome 1, autosomal dominant
Findings
No curated finding names Klippel-Feil syndrome 1, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF6 gene.
Definition from the Mondo Disease Ontology (MONDO:0007306), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
23 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.
- Hearing impairmentHPOHP:0000365
- 20 of 24 reported patients
- Abnormal vertebral segmentation and fusionHPOHP:0005640
- Very frequent (80% to 99% of cases) · Congenital onset
- Cervical C2/C3 vertebral fusionHPOHP:0004602
- Very frequent (80% to 99% of cases)
- Limited neck range of motionHPOHP:0000466
- Very frequent (80% to 99% of cases)
- Short neckHPOHP:0000470
- Very frequent (80% to 99% of cases)
- ScoliosisHPOHP:0002650
- 30 of 50 reported patients
Show the remaining 11
- Sensorineural hearing impairmentHPOHP:0000407
- 8 of 24 reported patients
- Abnormality of the nervous systemHPOHP:0000707
- 5 of 19 reported patients
- Conductive hearing impairmentHPOHP:0000405
- 5 of 24 reported patients
- Mixed hearing impairmentHPOHP:0000410
- 5 of 24 reported patients
- Bimanual synkinesiaHPOHP:0001335
- 9 of 50 reported patients
- Unilateral renal agenesisHPOHP:0000122
- 7 of 45 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.
- GDF6HGNC:4221
- Definitive · G2P · Autosomal dominant · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
Where it sits
- A kind of
Other names
2 names
Resolves to: Klippel-Feil syndrome 1, autosomal dominant
- Also called
- GDF6 isolated Klippel-Feil syndromeisolated Klippel-Feil syndrome caused by mutation in GDF6