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Microcephaly-albinism-digital anomalies syndrome

Disease definition

Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.

ORPHA:2513

  • Synonym(s):
    • Castro Gago-Pombo-Novo syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 203340
  • UMLS: C1859910
  • MeSH: C537322
  • GARD: 3604
  • MedDRA: -

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