Features include very common findings: Hearing loss (hearing impairment), Abnormal vertebral segmentation and fusion, Short neck, and Limited neck range of motion and others; and common findings: Low posterior hairline, Sprengel anomaly, Abnormality of the kidney, and Sideways curvature of the spine (scoliosis) and others. 24 total HPO annotations.

GDF6 encodes growth differentiation factor 6 (455 aa). Growth factor that controls proliferation and cellular differentiation in the retina and bone formation. Plays a key role in regulating apoptosis during retinal development. Highest expression in Cells Cultured fibroblasts (2.7 TPM) and Uterus (2.6 TPM).

Klippel-Feil syndrome 1, autosomal dominant is associated with mutations in the GDF6 gene on chromosome 8.

GDF6 is classified as a druggable target (Druggable Genome, Growth Factor, and Transcription Factor categories) with score 0.0.

Genetic testing for GDF6 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Klippel-Feil syndrome 1, autosomal dominant has been reported in the published literature.

Phenotype severity distribution: 5 very common features, 5 common features.

2 clinical trials registered, 1 recruiting. Interventions under study include other interventions and procedural interventions. Research is primarily sponsored by academic and government institutions.

76 publications have been identified in PubMed for Klippel-Feil syndrome 1, autosomal dominant. Research spans Case Report / Case Series (71%), Review / Meta-Analysis (14%), and Diagnostic / Biomarker (5%).