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GENATLAS PHENOTYPE
last update : 06-06-2018
Symbol COOD
Location 17q21.33
Name cerebral, osteoporosis, ocular involvement with or without deafness
Other name(s) Spondyloocular syndrome
Corresponding gene XYLT2
Other symbol(s) SOS
Main clinical features
  • bone fragility, hearing impairment, heart septal defects, ocular defects due to hyperplasia of the vitreous, corneal opacity, secondary glaucoma, and learning difficulties
  • generalized vertebral flattening, and compression fractures in early infancy, cataract with retinal detachment, heart or urinary defects
  • cataract, loss of vision due to retinal detachment, facial dysmorphism, facial hypotonia, normal height with disproportionate short trunk, immobile spine with thoracic kyphosis, and reduced lumbar lordosis
  • Genetic determination autosomal recessive
    Function/system disorder ear
    osteo-articular
    kidney and urinary tract
    eye
    Type disease
    Remark(s)
  • all individuals possess homozygous frameshift mutations in XYLT2 that resulted in premature termination of transcription (PMID: 26027496))