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GMS syndrome

Orpha number ORPHA2090
Synonym(s) Goniodysgenesis - intellectual disability - short stature
Prevalence -
Inheritance -
Age of onset -
ICD-10
  • Q87.8
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

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 new cases reported since 1992.


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