" /> Ectodermal dysplasia with natal teeth, Turnpenny type - CISMeF





Preferred Label : Ectodermal dysplasia with natal teeth, Turnpenny type;

ICD-11 definition : Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency isan inborn error of metabolism characterised by hypo- or oligodontia and acanthosis nigricans.;

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

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28/05/2025


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