Term Name:	immunodeficiency, developmental delay, and hypohomocysteinemia
Synonyms:	IMDDHH
Definition:	An autosomal dominant intellectual developmental disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia that has_material_basis_in heterozygous mutation in the NFE2L2 gene on chromosome 2q31.
Ontology:	Human Disease [DOID:0070747]   ( DOID:0070747 )