MVK
-
Retinopathy
-
Ataxia
-
Monogenic inflammatory bowel disease
-
Periodic fever syndromes
-
Cytopenias and inborn errors of immunity
-
Familial hemophagocytic iymphohistiocytosis
-
Congenital diarrhea
-
Autoimmune and autoinflammatory syndromes
-
Infantile enterocolitis & monogenic inflammatory bowel disease
-
Palmoplantar keratoderma
-
Leukodystrophy- White Matter Disease Early Onset