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  2. Roifman-Chitayat syndrome

Roifman-Chitayat syndrome

Definition:

Roifman-Chitayat syndrome (ROCHIS) is a combined immunodeficiency, characterized by facial dysmorphism, optic nerve atrophy, skeletal anomalies, myoclonic seizures, and substantial developmental delays. It has been reported that dual loss of PIK3CD and KNSTRN expression causes this syndrome.

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