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2q37 microdeletion syndrome

Disease definition

Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

ORPHA:1001

  • Synonym(s):
    • Albright hereditary osteodystrophy type 3
    • Albright hereditary osteodystrophy-like syndrome
    • Brachydactyly-intellectual disability syndrome
    • Del(2)(q37)
    • Deletion 2q37
    • Deletion 2q37-qter
    • Monosomy 2q37-qter
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Neonatal
  • ICD-10: Q93.5
  • OMIM: 600430
  • UMLS: C2931817
  • MeSH: C538317
  • GARD: 10202
  • MedDRA: -

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