Rare Disease Library

Acute necrotizing encephalopathy of childhood

ANEC · Isolated ANE

Acute bilirubin encephalopathy

ABE · Acute kernicterus

Familial acute necrotizing encephalopathy

ADANE · Recurrent acute necrotizing encephalopathy

Immune-mediated necrotizing myopathy

Autoimmune necrotizing myositis · Necrotizing autoimmune myositis

Isolated encephalocele

Leigh syndrome

Infantile subacute necrotizing encephalopathy · Leigh disease

Leigh syndrome with leukodystrophy

Infantile subacute necrotizing encephalopathy with leukodystrophy · Leigh disease with leukodystrophy

Leigh syndrome with nephrotic syndrome

Infantile subacute necrotizing encephalopathy with nephrotic syndrome · Leigh disease with nephrotic syndrome

Mitochondrial DNA-associated Leigh syndrome

mtDNA-associated Leigh syndrome · MILS

OBSOLETE: Sporadic Leigh syndrome

OBSOLETE: Sporadic Leigh disease · OBSOLETE: Sporadic infantile subacute necrotizing encephalopathy

STXBP1-related encephalopathy