" /> Donohue syndrome - CISMeF





Preferred Label : Donohue syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : LEPRECHAUNISM;

Included titles and symbols : Insulin receptor, defect in;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the insulin receptor gene (INSR, 147670.0002);

Neoplasia : Juvenile ovarian granulosa cell tumor;

Laboratory abnormalities : Elevated plasma insulin; Absent anti-insulin receptor antibodies; Postprandial hyperglycemia; Fasting hypoglycemia;

Prefixed ID : #246200;

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29/07/2025


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