Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
De novo missense variants in phosphatidylinositol kinase PIP5KI? underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
