" /> Immunodeficiency, developmental delay, and hypohomocysteinemia - CISMeF





Preferred Label : Immunodeficiency, developmental delay, and hypohomocysteinemia;

Symbol : IMDDHH;

CISMeF acronym : IMDDHH;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the nuclear factor erythroid 2-like 2 gene (NFE2L2, 600492.0001);

Laboratory abnormalities : Decreased creatine; Hypohomocysteinemia; Decreased plasma cysteine;

Prefixed ID : #617744;

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07/07/2025


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