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Galloway-Mowat syndrome

Disease definition

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.

ORPHA:2065

Classification level: Disorder
  • Synonym(s):
    • Galloway syndrome
    • Microcephaly-hiatus hernia-nephrotic syndrome
    • Nephrosis-neuronal dysmigration syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive or X-linked recessive 
  • Age of onset: Infancy, Neonatal, Childhood
  • ICD-10: Q04.3
  • OMIM: 251300  301006  617729  617730  617731  618347  618348  618349
  • UMLS: C0795949
  • MeSH: C537548
  • GARD: 65
  • MedDRA: -

Detailed information

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.