Catalog

Ectodermal dysplasia with natal teeth, Turnpenny type

No MMS code

Link to WHO Definition

Ectodermal dysplasia with natal teeth, Turnpenny type – http://id.who.int/icd/entity/612149960

Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is an inborn error of metabolism characterised by hypo- or oligodontia and acanthosis nigricans.