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Prominent glabella-microcephaly-hypogenitalism syndrome

Disease definition

Prominent glabella – microcephaly – hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.

ORPHA:2083

Classification level: Disorder
  • Synonym(s):
    • MacDermot-Winter syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.8
  • OMIM: 247990
  • UMLS: C0796024
  • MeSH: -
  • GARD: 144
  • MedDRA: -
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