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GMS syndrome

ORPHA2090
Synonym(s) Goniodysgenesis-intellectual disability-short stature syndrome
Prevalence <1 / 1 000 000
Inheritance -
Age of onset Neonatal
ICD-10
  • Q87.8
OMIM
UMLS -
MeSH -
MedDRA -

Summary

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.

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