Term Name:	ICHAD syndrome
Synonyms:	ICHAD, immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay
Definition:	An immune system disease characterized by onset of immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay soon after birth or in early infancy that has_material_basis_in heterozygous gain-of-function mutation in the IKZF2 gene on chromosome 2q34. Affected individuals have recurrent, mainly respiratory, infections and may have autoimmune features.
Ontology:	Human Disease [DOID:0070796]   ( DOID:0070796 )