Number of the records: 1  

Donohueov syndróm

  1. Record numberd056731
    Date06.06.2025
    TypeM
    Topical termDonohueov syndróm
    Other termEnglish (Pseudonym) Leprechaunism
    English (Pseudonym) Mendenhall Syndrome
    English (Pseudonym) Rabson-Mendenhall Syndrome
    Slovak (Pseudonym) leprechaunizmus
    Slovak (Pseudonym) Mendenhallov syndróm
    Slovak (Pseudonym) Rabsonov-Mendenhallov syndróm
    See also(Later heading) receptor inzulínový
    (Skutočné meno) rezistencia inzulínová
    (Skutočné meno) receptor inzulínový
    UDCC05.660.207.325C16.131.077.313C16.320.215C18.452.394.750.654C19.246.537
    NoteRare autosomal recessive syndrome of extreme insulin resistance due to mutations in the binding domain of INSULIN RECEPTOR. Clinical features include severe intrauterine and postnatal growth restriction, characteristic dysmorphic FACIES; HIRSUTISM; VIRILIZATION; multiple endocrine abnormalities, and early death.
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Number of the records: 1  

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