Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome

Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)

active

Code	`720853005`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20170131

Synonyms

Cernunnos-XLF deficiency
NHEJ1 (non-homologous end joining factor) syndrome
Severe combined immunodeficiency due to Cernunnos protein deficiency
Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome

Parents (4)

362993009Autosomal recessive SCID (severe combined immunodeficiency disease) disorder
363070008Developmental hereditary disorder disorder
65094009Multiple malformation syndrome with facial defects as major feature disorder
190997006Severe combined immunodeficiency with low T- and B-cell numbers disorder

Children (0)

None (leaf concept).