Rare Disease Library

Mitochondrial DNA-associated Leigh syndrome

mtDNA-associated Leigh syndrome · MILS

F12-associated cold autoinflammatory syndrome

FACAS

Fragile X-associated tremor/ataxia syndrome

FXTAS syndrome

Hemophagocytic syndrome associated with an infection

IAHS · VAHS

Leigh syndrome

Infantile subacute necrotizing encephalopathy · Leigh disease

Mitochondrial DNA depletion syndrome

mtDNA depletion syndrome

NLRP3-associated autoinflammatory disease

CAPS · Cryopyrinopathy

Proteasome-associated autoinflammatory syndrome

ALDD syndrome · Autoinflammation-lipodystrophy-dermatosis syndrome

SAMD9L-associated autoinflammatory syndrome

SAMD9L-SAAD

Syndrome associated with dilated cardiomyopathy

Tumor necrosis factor receptor 1 associated periodic syndrome

Familial Hibernian fever · TNF receptor 1-associated periodic syndrome