Ectodermal dysplasia with natal teeth, Turnpenny type

neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency isan inborn error of Metabolism characterised by hypo- or oligodontia and acanthosis nigricans.

Organ Affected

  • Skin System (Integumentary System)
  • 12134 0.589386224747