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GENATLAS PHENOTYPE
last update : 10-10-2024
Symbol KFS1
Location 8q22.1
Name Klippel-Feil syndrome with laryngeal malformation
Other name(s) segmentation syndrome 1
Corresponding gene GDF6
Other symbol(s) SGM1
Main clinical features
  • Klippel-Feil syndrome in association with malformation of laryngeal cartilages and mild to severe vocal impairment, vertebral fusion confined to the cervical spine C2-3, C4-5 and C6-7 fusions were less consistently present
    • Genetic determination autosomal dominant
    autosomal recessive
    Function/system disorder osteo-articular
    congenital malformation
    Type malformation
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    Remark(s)