Immunodeficiency, Developmental Delay, and Hypohomocysteinemia (IMDDHH)

Immunodeficiency, Developmental Delay, and Hypohomocysteinemia, is also known as imddhh. An important gene associated with Immunodeficiency, Developmental Delay, and Hypohomocysteinemia is NFE2L2 (NFE2 Like BZIP Transcription Factor 2). Affiliated tissues include heart and liver, and related phenotypes are recurrent lower respiratory tract infections and mild global developmental delay