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Hypotrichosis with juvenile macular degeneration

Disease definition

Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.

ORPHA:1573

  • Synonym(s):
    • HJMD
    • Hypotrichosis with juvenile macular dystrophy
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q84.0
  • OMIM: 601553
  • UMLS: C1832162
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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Additional information

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