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GMS syndrome

Disease definition

GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992.

ORPHA:2090

  • Synonym(s):
    • Goniodysgenesis-intellectual disability-short stature syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 138770
  • UMLS: C1841854
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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Additional information

Further information on this disease

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