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"

10 matching diseasesClear search ×

Early infantile developmental and epileptic encephalopathy

Early infantile epileptic encephalopathy with suppression-bursts · Ohtahara syndrome

ORPHA:1934

Acute encephalopathy with inflammation-mediated status epilepticus

ORPHA:363567

Developmental and epileptic encephalopathy with spike-wave activation in sleep

CSWS · CSWSS syndrome

ORPHA:725

Early myoclonic encephalopathy

Early myoclonic encephalopathy with suppression-bursts

ORPHA:1935

Infantile epileptic-dyskinetic encephalopathy

ORPHA:364063

Infantile glycine encephalopathy

Infantile NKH · Infantile non-ketotic hyperglycinemia

ORPHA:289860

Leigh syndrome with nephrotic syndrome

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

ORPHA:255249

Non-specific early-onset epileptic encephalopathy

Non-specific EOEE · Undetermined early-onset epileptic encephalopathy

ORPHA:442835

OBSOLETE: Early infantile epileptic encephalopathy without suppression burst

ORPHA:369894

Ravine syndrome

Progressive encephalopathy with severe infantile anorexia · Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome

ORPHA:99852