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GENATLAS PHENOTYPE
last update : 10-10-2016
Symbol SCDO1
Location 19q13.2
Name spondylocostal dysostosis, type 1
Other name(s)
  • delta-like 3
  • spondylothoracic dysostosis
  • Jarcho-Levin syndrome
    • Corresponding gene DLL3
    Other symbol(s) SCDAR1
    Main clinical features
  • general vertebral segmentation defect and subdefects, short thorax, short neck with limited mobility, winged scapulae, and scoliosis or kyphoscoliosis, particularly vertebral anomalies, including hemivertebrae and vertebral fusions affecting the whole vertebral column
    • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    congenital malformation
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   absent protein homozygous for a frameshift mutation 1440delG
    Remark(s)