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Say-Barber-Miller syndrome

Disease definition

Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation.


Classification level: Disorder
  • Synonym(s):
    • Microcephaly-hypogammaglobulinemia-abnormal immunity syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 251240
  • UMLS: C2931267
  • MeSH: C536618
  • GARD: 239
  • MedDRA: -
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