RIDDLE syndrome

Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome (disorder)

active

Code	`783099001`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20190731

Synonyms

RIDDLE (radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties) syndrome
RNF168 (ring finger protein 168) deficiency
Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome

Parents (5)

85995004Autosomal recessive hereditary disorder disorder
442459007Combined immunodeficiency disease disorder
36138009Congenital immunodeficiency disease disorder
363070008Developmental hereditary disorder disorder
65094009Multiple malformation syndrome with facial defects as major feature disorder

Children (0)

None (leaf concept).