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Arthrogryposis-like hand anomaly-sensorineural deafness syndrome

Disease definition

A rare syndrome characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.

ORPHA:1144

Classification level: Disorder
  • Synonym(s):
    • Arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome
    • Distal arthrogryposis type 6
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Neonatal
  • ICD-10: Q68.8
  • OMIM: 108200
  • UMLS: C1862471
  • MeSH: C535386
  • GARD: 784
  • MedDRA: -
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