Preferred Label : Severe combined immunodeficiency - microcephaly - growth retardation - sensitivity
to ionizing radiation;
ICD-11 definition : Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized
by microcephaly, growth retardation, and T and B cell lymphopenia.;
ICD-11 synonym : NHEJ1 syndrome; NHEJ1 - [non-homologous end joining factor] syndrome; Combined immunodeficiency due to Cernunnos protein deficiency;
Origin ID : 813059965;
Automatic exact mappings (from CISMeF team)
Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized
by microcephaly, growth retardation, and T and B cell lymphopenia.