Orphanet: 2q37 microdeletion syndrome
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2q37 microdeletion syndrome

Disease definition

A rare chromosomal anomaly involving deletion of chromosome band 2q37 and characterized by a broad spectrum of clinical findings including mild-moderate developmental delay/intellectual disability, brachymetaphalangy of digits 3-5, short stature, obesity, hypotonia, specific facial dysmorphism, abnormal behavior, autism or autism spectrum disorder, joint hypermobility/dislocation, and scoliosis.

ORPHA:1001

Classification level: Disorder
  • Synonym(s):
    • Albright hereditary osteodystrophy type 3
    • Albright hereditary osteodystrophy-like syndrome
    • Brachydactyly-intellectual disability syndrome
    • Del(2)(q37)
    • Deletion 2q37
    • Monosomy 2q37qter
  • Prevalence: Unknown
  • Inheritance: Not applicable or Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q93.5
  • OMIM: 600430
  • UMLS: C2931817
  • MeSH: C538317
  • GARD: 10202
  • MedDRA: -

Detailed information

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