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GMS syndrome

MedGen UID:
374804
Concept ID:
C1841854
Disease or Syndrome
Synonym: GONIODYSGENESIS--MENTAL RETARDATION--SHORT STATURE SYNDROME
SNOMED CT: Goniodysgenesis with intellectual disability and short stature syndrome (716024001); GMS syndrome (716024001); Goniodysgenesis with mental deficiency and short stature (716024001)
 
Monarch Initiative: MONDO:0007679
OMIM®: 138770
Orphanet: ORPHA2090

Definition

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. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGMS syndrome
Follow this link to review classifications for GMS syndrome in Orphanet.

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