Klippel-Feil syndrome 3, autosomal dominant
Findings
No curated finding names Klippel-Feil syndrome 3, 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 GDF3 gene.
Definition from the Mondo Disease Ontology (MONDO:0013375), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
5 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.
- Cervical C3/C4 vertebral fusionHPOHP:0030281
- Cervical C6/C7 vertebrae fusionHPOHP:6000807
- Chorioretinal colobomaHPOHP:0000567
- Iris colobomaHPOHP:0000612
- Thoracic scoliosisHPOHP:0002943
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.
- GDF3HGNC:4218
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2019
- Limited · G2P · Autosomal dominant · 2023
Where it sits
- A kind of
Other names
2 names
Resolves to: Klippel-Feil syndrome 3, autosomal dominant
- Also called
- GDF3 isolated Klippel-Feil syndromeisolated Klippel-Feil syndrome caused by mutation in GDF3