22q11.2 Deletion Syndrome

Cyberian Codex MONDO:0018923

Disorder

  • Name: 22q11.2 Deletion Syndrome
  • Category: Genetic
  • Existing deep-research providers: cyberian-codex, perplexity
  • Existing evidence reference count in YAML: 26

Key Pathophysiology Nodes

  • TBX1 haploinsufficiency and pharyngeal arch development
  • Cardiac neural crest migration defect
  • Thymic hypoplasia and T-cell immunodeficiency
  • Parathyroid hypoplasia and hypocalcemia
  • Deep research literature mapping

Citation Inventory (for evidence mapping)