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;
Origin ID : 617744;
UMLS CUI : C4540293;
Genes related to phenotype
HPO term(s)
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