Main Clinical features:
• Progredient microcephaly, dystrophy, postnatal short stature
• Developmental delay
• Aseptic autoinflammations
• Brain anomalies (cerebellar atrophy, hypomyelination, thin corpus callosum)
• Hepatopathy
• Endocrine abnormalities
• High risk of multi-organ failure and uncontrollable autoinflammation
C2orf69