" /> Immunodeficiency 59 and hypoglycemia - CISMeF





Preferred Label : Immunodeficiency 59 and hypoglycemia;

Symbol : IMD59;

CISMeF acronym : IMD59;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Granulocytopenia with immunoglobulin abnormality;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the hypoxia up-regulated 1 gene (HYOU1, 601746.0001);

Prefixed ID : #233600;

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03/05/2025


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