Galloway-Mowat syndrome

What is Galloway-Mowat syndrome?

A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome.

Other condition names

  • Galloway syndrome
  • Microcephaly-hiatus hernia-nephrotic syndrome
  • Nephrosis-neuronal dysmigration syndrome

Inheritance type

Autosomal recessive, X-linked recessive

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Childhood
  • Infancy
  • Neonatal
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