Orphanet: Jalili syndrome

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Jalili syndrome

Disease definition

Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI; see this term) and cone-rod retinal dystrophy (CORD; see this term).


Classification level: Disorder
  • Synonym(s):
    • Cone rod dystrophy-amelogenesis imperfecta syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: H35.5
  • OMIM: 217080
  • UMLS: C2931074  C3495589
  • MeSH: -
  • GARD: 1463
  • MedDRA: -
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