Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

8 matching diseasesClear search ×

Leigh syndrome with leukodystrophy

Infantile subacute necrotizing encephalopathy with leukodystrophy · Leigh disease with leukodystrophy

ORPHA:255241

Acute necrotizing encephalopathy of childhood

ANEC · Isolated ANE

ORPHA:263524

Familial acute necrotizing encephalopathy

ADANE · Recurrent acute necrotizing encephalopathy

ORPHA:88619

Leigh syndrome

Infantile subacute necrotizing encephalopathy · Leigh disease

ORPHA:506

Leigh syndrome with nephrotic syndrome

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

ORPHA:255249

Mitochondrial DNA-associated Leigh syndrome

mtDNA-associated Leigh syndrome · MILS

ORPHA:255210

OBSOLETE: Sporadic Leigh syndrome

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

ORPHA:255199

Progressive encephalopathy with leukodystrophy due to DECR deficiency

2,4-dienoyl-CoA reductase deficiency · DECR deficiency with hyperlysinemia

ORPHA:431361