Disease due to genetic mutation

external

• Synonyms

  • Gene mutation diseases

• Parents

  • Gene mutation

• Children

  • Cystic fibrosis
  • Adult polycystic kidney disease
  • Sickle cell anaemia
  • Alkaptonuria
  • Cystinuria
  • Primary haemochromatosis
  • Wilson's disease
  • Fanconi anaemia
  • Congenital metabolic disease
  • Hereditary neoplasia
  • Duchenne muscular dystrophy
  • Superoxide dismutase gene mutation
  • Holt-Oram syndrome
  • Beckwith-Wiedemann syndrome
  • Bloom syndrome
  • Cri-du-chat syndrome
  • Cornelia de Lange syndrome
  • Ellis-van Creveld syndrome
  • Howel-Evans syndrome
  • Noonan syndrome
  • Rett syndrome
  • Russell-Silver syndrome
  • Riley-Day syndrome
  • Aicardi syndrome
  • Weil-Marchesani syndrome
  • Werner syndrome
  • CHARGE syndrome
  • Nail-patella syndrome
  • Prothrombin 20210A
  • Prune-belly syndrome
  • Dentatorubral pallidoluysian atrophy
  • Purine nucleoside phosphorylase deficiency
  • Spinal muscular atrophy

• Description

  • " "