Orphanet: Laurence Moon syndrome

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Laurence-Moon syndrome

Disease definition

A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 245800
  • UMLS: C0023138
  • MeSH: D007849
  • GARD: 12635
  • MedDRA: 10056710

Detailed information


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