C2orf69

Clinical Characteristics

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