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48,XYYY syndrome

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: 48,XYYY
SNOMED CT: 48,XYYY syndrome (733625003)
Monarch Initiative: MONDO:0020469
Orphanet: ORPHA99329


A rare Y chromosome number anomaly that affects only males. The disease has characteristics of mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV48,XYYY syndrome

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