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Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome

Disease definition

An inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.


Classification level: Disorder
  • Synonym(s):
    • Distal arthrogryposis type 5
    • Distal arthrogryposis type IIB
    • Distal arthrogryposis with ophthalmoplegia
    • Oculomelic amyoplasia
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q68.8
  • OMIM: 108145
  • UMLS: C1834523  C1862472
  • MeSH: -
  • GARD: 4047
  • MedDRA: -
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