Ectodermal dysplasia with natal teeth, Turnpenny type (Q83081)

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Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is an inborn error of metabolism characterised by hypo- or oligodontia and acanthosis nigricans.
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ID_612149960
    English
    Ectodermal dysplasia with natal teeth, Turnpenny type
    Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is an inborn error of metabolism characterised by hypo- or oligodontia and acanthosis nigricans.

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      CID11:ID_612149960
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      dki-india-ID_612149960
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      Concluído
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      13 August 2026
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