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GAPO syndrome

Disease definition

GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations

ORPHA:2067

  • Synonym(s):
    • Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 230740
  • UMLS: C0406723
  • MeSH: -
  • GARD: 400
  • MedDRA: -

Additional information

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