Prominent glabella-microcephaly-hypogenitalism syndrome

What is Prominent glabella-microcephaly-hypogenitalism syndrome?

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.

Other condition names

  • MacDermot-Winter syndrome

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Antenatal
  • Neonatal
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