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 ×

Non-specific early-onset epileptic encephalopathy

Non-specific EOEE · Undetermined early-onset epileptic encephalopathy

ORPHA:442835

ARX-related epileptic encephalopathy

ORPHA:182079

Early infantile developmental and epileptic encephalopathy

Early infantile epileptic encephalopathy with suppression-bursts · Ohtahara syndrome

ORPHA:1934

Early myoclonic encephalopathy

Early myoclonic encephalopathy with suppression-bursts

ORPHA:1935

Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation

ORPHA:289266

Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy

WWOX-related epileptic encephalopathy

ORPHA:708171

FOXG1 syndrome

FOXG1-related epileptic-dyskinetic encephalopathy

ORPHA:561854

Infantile epileptic-dyskinetic encephalopathy

ORPHA:364063

Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy

PNPO-related neonatal epileptic encephalopathy · Pyridoxal phosphate-dependent seizures

ORPHA:79096

RNF13-related severe early-onset epileptic encephalopathy

RNF13-related severe EOEE

ORPHA:544503